| ARSA, 11-BP DEL, EX8 |
deletion |
Metachromatic leukodystrophy, late infantile form [RCV000003200] |
Chr22:22q13.31-qter |
pathogenic |
| ARSA, 1-BP DEL, 447C |
deletion |
Metachromatic leukodystrophy, late infantile form [RCV000003201] |
Chr22:22q13.31-qter |
pathogenic |
| ARSA, 1-BP DEL, 297C |
deletion |
Metachromatic leukodystrophy [RCV000003211] |
Chr22:22q13.31-qter |
pathogenic |
| ARSA, IVS4DS, G-A, +1 |
single nucleotide variant |
Metachromatic leukodystrophy, severe [RCV000003222] |
Chr22:22q13.31-qter |
pathogenic |
| NM_000487.6(ARSA):c.979G>T (p.Gly327Cys) |
single nucleotide variant |
Arylsulfatase A pseudodeficiency [RCV000003225] |
Chr22:50626154 [GRCh38]
Chr22:51064582 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1198TTC[1] (p.Phe401del) |
microsatellite |
Metachromatic leukodystrophy [RCV000003232] |
Chr22:50625586..50625588 [GRCh38]
Chr22:51064014..51064016 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*96A>G |
single nucleotide variant |
Arylsulfatase A pseudodeficiency [RCV000003190]|Metachromatic leukodystrophy [RCV000020309]|not provided [RCV000180167]|not specified [RCV000246300] |
Chr22:50625049 [GRCh38]
Chr22:51063477 [GRCh37]
Chr22:22q13.33 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|other|not provided |
| NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) |
single nucleotide variant |
ARYLSULFATASE A POLYMORPHISM [RCV000003191]|Metachromatic leukodystrophy [RCV000020310]|Metachromatic leukodystrophy, juvenile type [RCV001357207]|not provided [RCV000078931]|not specified [RCV000249834] |
Chr22:50625988 [GRCh38]
Chr22:51064416 [GRCh37]
Chr22:22q13.33 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other|not provided |
| NM_000487.6(ARSA):c.465+1G>A |
single nucleotide variant |
ARSA-related condition [RCV003934795]|Inborn genetic diseases [RCV001267384]|Intellectual disability [RCV001251910]|Metachromatic leukodystrophy [RCV000020319]|Metachromatic leukodystrophy, adult type [RCV000003194]|Metachromatic leukodystrophy, juvenile type [RCV000003192]|Neurodevelopmental disorder [RCV001778645]|See cases [RCV002251862]|not provided [RCV000335617] |
Chr22:50627165 [GRCh38]
Chr22:51065593 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) |
single nucleotide variant |
Arylsulfatase a, allele a [RCV000003196]|Intellectual disability [RCV001251909]|Metachromatic leukodystrophy [RCV000020314]|Metachromatic leukodystrophy, adult type [RCV000003197]|Metachromatic leukodystrophy, juvenile type [RCV000003195]|not provided [RCV000392246] |
Chr22:50625392 [GRCh38]
Chr22:51063820 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000020318]|Metachromatic leukodystrophy, adult type [RCV000003198]|not provided [RCV000724149] |
Chr22:50627329 [GRCh38]
Chr22:51065757 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000020317]|Metachromatic leukodystrophy, late infantile form [RCV000003199]|not provided [RCV000723374] |
Chr22:50627338 [GRCh38]
Chr22:51065766 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV001267385]|Metachromatic leukodystrophy [RCV000020320]|Metachromatic leukodystrophy, adult type [RCV000003203]|Metachromatic leukodystrophy, juvenile type [RCV000003202]|not provided [RCV000657846] |
Chr22:50626976 [GRCh38]
Chr22:51065404 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.1210+1G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000020312]|Metachromatic leukodystrophy, juvenile type [RCV000003204]|not provided [RCV000723835] |
Chr22:50625578 [GRCh38]
Chr22:51064006 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000020316]|Metachromatic leukodystrophy, late-onset [RCV000003205]|not provided [RCV000723563] |
Chr22:50627374 [GRCh38]
Chr22:51065802 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) |
single nucleotide variant |
Abnormality of the nervous system [RCV001813940]|Metachromatic leukodystrophy [RCV000666302]|Metachromatic leukodystrophy, late infantile form [RCV000003206]|Pseudoarylsulfatase A deficiency [RCV000714802]|not provided [RCV002286693] |
Chr22:50626202 [GRCh38]
Chr22:51064630 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.263G>A (p.Gly88Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001353057]|Metachromatic leukodystrophy, severe [RCV000003207] |
Chr22:50627368 [GRCh38]
Chr22:51065796 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu) |
indel |
Metachromatic leukodystrophy, severe [RCV000003208]|not provided [RCV000058959] |
Chr22:50627338..50627339 [GRCh38]
Chr22:51065766..51065767 [GRCh37]
Chr22:22q13.33 |
pathogenic|not provided |
| NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) |
single nucleotide variant |
ARSA-related condition [RCV003415633]|Inborn genetic diseases [RCV000623394]|Metachromatic leukodystrophy [RCV000003209]|not provided [RCV000078945] |
Chr22:50627261 [GRCh38]
Chr22:51065689 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.413C>T (p.Pro138Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000675081]|Metachromatic leukodystrophy, severe [RCV000003210] |
Chr22:50627218 [GRCh38]
Chr22:51065646 [GRCh37]
Chr22:22q13.33 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.467G>A (p.Gly156Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000003212] |
Chr22:50627051 [GRCh38]
Chr22:51065479 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.470C>G (p.Pro157Arg) |
single nucleotide variant |
Arylsulfatase A pseudodeficiency [RCV000003213] |
Chr22:50627048 [GRCh38]
Chr22:51065476 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.506C>G (p.Pro169Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000003214] |
Chr22:50627012 [GRCh38]
Chr22:51065440 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) |
single nucleotide variant |
Arylsulfatase A pseudodeficiency [RCV000003215]|Intellectual disability [RCV001251908]|Metachromatic leukodystrophy [RCV000540770]|not provided [RCV003480017]|not specified [RCV002265546] |
Chr22:50627007 [GRCh38]
Chr22:51065435 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.641C>T (p.Ala214Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000003216]|not provided [RCV000723836] |
Chr22:50626877 [GRCh38]
Chr22:51065305 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.677C>T (p.Ala226Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000003217]|not provided [RCV000343115] |
Chr22:50626841 [GRCh38]
Chr22:51065269 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.697C>A (p.Pro233Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000003218]|not specified [RCV003387714] |
Chr22:50626748 [GRCh38]
Chr22:51065176 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000003219] |
Chr22:50626709 [GRCh38]
Chr22:51065137 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000020321]|Metachromatic leukodystrophy, severe [RCV000003220]|not provided [RCV000723992] |
Chr22:50626706 [GRCh38]
Chr22:51065134 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.827C>T (p.Thr276Met) |
single nucleotide variant |
ARSA-related condition [RCV003904799]|Metachromatic leukodystrophy [RCV000169246]|Metachromatic leukodystrophy, severe [RCV000003221]|not provided [RCV000991546] |
Chr22:50626618 [GRCh38]
Chr22:51065046 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.868C>T (p.Arg290Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000003223]|Spastic ataxia [RCV001642197] |
Chr22:50626265 [GRCh38]
Chr22:51064693 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000492011]|Metachromatic leukodystrophy, severe [RCV000003224] |
Chr22:50626243 [GRCh38]
Chr22:51064671 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) |
single nucleotide variant |
Leukodystrophy [RCV000414806]|Metachromatic leukodystrophy [RCV000169024]|Metachromatic leukodystrophy, severe [RCV000003226]|not provided [RCV000413321] |
Chr22:50626033 [GRCh38]
Chr22:51064461 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000078933]|Metachromatic leukodystrophy, severe [RCV000003227]|not provided [RCV000723522] |
Chr22:50625675 [GRCh38]
Chr22:51064103 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000544790]|Metachromatic leukodystrophy, mild [RCV000003228] |
Chr22:50625674 [GRCh38]
Chr22:51064102 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu) |
single nucleotide variant |
Arylsulfatase a pseudodeficiency, severe [RCV000003229]|Metachromatic leukodystrophy [RCV003500499]|not provided [RCV002512051] |
Chr22:50625653 [GRCh38]
Chr22:51064081 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) |
single nucleotide variant |
Arylsulfatase a pseudodeficiency, intermediate [RCV000003230]|Metachromatic leukodystrophy [RCV000078936]|not provided [RCV000723624] |
Chr22:50625639 [GRCh38]
Chr22:51064067 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000003231]|not provided [RCV000723375] |
Chr22:50625615 [GRCh38]
Chr22:51064043 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000020313]|Metachromatic leukodystrophy, mild [RCV000003233] |
Chr22:50625443 [GRCh38]
Chr22:51063871 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1462C>T (p.Gln488Ter) |
single nucleotide variant |
Arylsulfatase A pseudodeficiency [RCV000003234] |
Chr22:50625213 [GRCh38]
Chr22:51063641 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.410T>C (p.Leu137Pro) |
single nucleotide variant |
Metachromatic leukodystrophy, adult type [RCV000003235] |
Chr22:50627221 [GRCh38]
Chr22:51065649 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000795605]|Metachromatic leukodystrophy, adult type [RCV000003236] |
Chr22:50626271 [GRCh38]
Chr22:51064699 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000169048]|Metachromatic leukodystrophy, late infantile form [RCV000003237]|not provided [RCV000364541] |
Chr22:50626682 [GRCh38]
Chr22:51065110 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001376978]|Metachromatic leukodystrophy, adult type [RCV000003238] |
Chr22:50625446 [GRCh38]
Chr22:51063874 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.905G>T (p.Cys302Phe) |
single nucleotide variant |
Metachromatic leukodystrophy, late infantile form [RCV000003239]|not provided [RCV000058989] |
Chr22:50626228 [GRCh38]
Chr22:51064656 [GRCh37]
Chr22:22q13.33 |
pathogenic|not provided |
| NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr) |
single nucleotide variant |
Metachromatic leukodystrophy, juvenile type [RCV000003240] |
Chr22:50625396 [GRCh38]
Chr22:51063824 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000020311]|not provided [RCV000675747]|not specified [RCV000078937] |
Chr22:50625611 [GRCh38]
Chr22:51064039 [GRCh37]
Chr22:22q13.33 |
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.5(ARSA):c.1407_1417delCGCAGCTGTGA (p.Ala470Leufs) |
deletion |
Metachromatic leukodystrophy [RCV000020315] |
Chr22:50625258..50625268 [GRCh38]
Chr22:51063686..51063696 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.769G>C (p.Asp257His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000020322]|not provided [RCV000255092] |
Chr22:50626676 [GRCh38]
Chr22:51065104 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 |
copy number loss |
See cases [RCV000050935] |
Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 |
copy number loss |
See cases [RCV000050848] |
Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] |
Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 |
copy number loss |
See cases [RCV000051371] |
Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 |
copy number loss |
See cases [RCV000051407] |
Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 |
copy number loss |
See cases [RCV000051408] |
Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 |
copy number loss |
See cases [RCV000051409] |
Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 |
copy number loss |
See cases [RCV000051410] |
Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 |
copy number loss |
See cases [RCV000051411] |
Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 |
copy number loss |
See cases [RCV000051412] |
Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 |
copy number loss |
See cases [RCV000051413] |
Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 |
copy number loss |
See cases [RCV000051440] |
Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] |
Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 |
copy number loss |
See cases [RCV000051442] |
Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 |
copy number loss |
See cases [RCV000051443] |
Chr22:49395349..50738932 [GRCh38]
Chr22:49788999..51177360 [GRCh37]
Chr22:48175003..49524226 [NCBI36]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q13.33(chr22:50620720-50745568)x1 |
copy number loss |
See cases [RCV000051444] |
Chr22:50620720..50745568 [GRCh38]
Chr22:51059148..51183996 [GRCh37]
Chr22:49406014..49530862 [NCBI36]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 |
copy number loss |
See cases [RCV000051098] |
Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 |
copy number gain |
See cases [RCV000051684] |
Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 |
copy number gain |
See cases [RCV000051686] |
Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 |
copy number gain |
See cases [RCV000051687] |
Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] |
Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 |
copy number gain |
See cases [RCV000051689] |
Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 |
copy number gain |
See cases [RCV000051682] |
Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.100G>A (p.Gly34Ser) |
single nucleotide variant |
not provided [RCV000058941] |
Chr22:50627680 [GRCh38]
Chr22:51066108 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001216197]|not provided [RCV000058942] |
Chr22:50625936 [GRCh38]
Chr22:51064364 [GRCh37]
Chr22:22q13.33 |
uncertain significance|not provided |
| NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn) |
single nucleotide variant |
not provided [RCV000058943] |
Chr22:50625657 [GRCh38]
Chr22:51064085 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.1149C>G (p.Asp383Glu) |
single nucleotide variant |
not provided [RCV000058944] |
Chr22:50625640 [GRCh38]
Chr22:51064068 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001329307]|not provided [RCV000058945]|not specified [RCV003387751] |
Chr22:50625633 [GRCh38]
Chr22:51064061 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance|not provided |
| NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000150058]|not provided [RCV000058946] |
Chr22:50625614 [GRCh38]
Chr22:51064042 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000672049]|not provided [RCV000058947] |
Chr22:50625594 [GRCh38]
Chr22:51064022 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000487.6(ARSA):c.1222A>G (p.Ser408Gly) |
single nucleotide variant |
not provided [RCV000058948] |
Chr22:50625453 [GRCh38]
Chr22:51063881 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002514296]|not provided [RCV000058949] |
Chr22:50625386 [GRCh38]
Chr22:51063814 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001854228]|not provided [RCV000058950] |
Chr22:50625383 [GRCh38]
Chr22:51063811 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|not provided |
| NM_000487.6(ARSA):c.1412C>G (p.Ala471Gly) |
single nucleotide variant |
not provided [RCV000058951] |
Chr22:50625263 [GRCh38]
Chr22:51063691 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000667096]|not provided [RCV000058952]|not specified [RCV002222376] |
Chr22:50625204 [GRCh38]
Chr22:51063632 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000487.6(ARSA):c.161T>C (p.Leu54Pro) |
single nucleotide variant |
not provided [RCV000058953] |
Chr22:50627619 [GRCh38]
Chr22:51066047 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.209T>C (p.Leu70Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500500]|not provided [RCV000058954] |
Chr22:50627571 [GRCh38]
Chr22:51065999 [GRCh37]
Chr22:22q13.33 |
pathogenic|not provided |
| NM_000487.6(ARSA):c.233T>C (p.Leu78Pro) |
single nucleotide variant |
not provided [RCV000058955] |
Chr22:50627398 [GRCh38]
Chr22:51065826 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) |
single nucleotide variant |
Frontotemporal dementia [RCV001090098]|Metachromatic leukodystrophy [RCV000409776]|not provided [RCV000058956] |
Chr22:50627375 [GRCh38]
Chr22:51065803 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance|not provided |
| NM_000487.6(ARSA):c.286C>G (p.Pro96Ala) |
single nucleotide variant |
not provided [RCV000058957] |
Chr22:50627345 [GRCh38]
Chr22:51065773 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.290G>A (p.Ser97Asn) |
single nucleotide variant |
not provided [RCV000058958] |
Chr22:50627341 [GRCh38]
Chr22:51065769 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.302G>T (p.Gly101Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000803574]|not provided [RCV000058960] |
Chr22:50627329 [GRCh38]
Chr22:51065757 [GRCh37]
Chr22:22q13.33 |
pathogenic|not provided |
| NM_000487.6(ARSA):c.361G>A (p.Gly121Arg) |
single nucleotide variant |
not provided [RCV000058961] |
Chr22:50627270 [GRCh38]
Chr22:51065698 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.412C>T (p.Pro138Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001854229]|not provided [RCV000058962] |
Chr22:50627219 [GRCh38]
Chr22:51065647 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|not provided |
| NM_000487.6(ARSA):c.418C>G (p.His140Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000667286]|not provided [RCV000058963] |
Chr22:50627213 [GRCh38]
Chr22:51065641 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001242589]|not provided [RCV000058964] |
Chr22:50627198 [GRCh38]
Chr22:51065626 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|not provided |
| NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000631449]|not provided [RCV000058965] |
Chr22:50627182 [GRCh38]
Chr22:51065610 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002513773]|not provided [RCV000058966] |
Chr22:50627171 [GRCh38]
Chr22:51065599 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|not provided |
| NM_000487.6(ARSA):c.465G>C (p.Gln155His) |
single nucleotide variant |
not provided [RCV000058967] |
Chr22:50627166 [GRCh38]
Chr22:51065594 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000778670]|not provided [RCV000058968] |
Chr22:50627048 [GRCh38]
Chr22:51065476 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance|not provided |
| NM_000487.6(ARSA):c.472T>C (p.Cys158Arg) |
single nucleotide variant |
not provided [RCV000058969] |
Chr22:50627046 [GRCh38]
Chr22:51065474 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.521G>A (p.Cys174Tyr) |
single nucleotide variant |
not provided [RCV000058970] |
Chr22:50626997 [GRCh38]
Chr22:51065425 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.548T>A (p.Leu183Gln) |
single nucleotide variant |
not provided [RCV000058971] |
Chr22:50626970 [GRCh38]
Chr22:51065398 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.576G>C (p.Gln192His) |
single nucleotide variant |
not provided [RCV000058972] |
Chr22:50626942 [GRCh38]
Chr22:51065370 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.577C>A (p.Pro193Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500501]|not provided [RCV000058973] |
Chr22:50626941 [GRCh38]
Chr22:51065369 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|not provided |
| NM_000487.6(ARSA):c.59C>A (p.Ala20Asp) |
single nucleotide variant |
not provided [RCV000058974] |
Chr22:50627721 [GRCh38]
Chr22:51066149 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000664907]|not provided [RCV000058975] |
Chr22:50626910 [GRCh38]
Chr22:51065338 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|not provided |
| NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001380269]|not provided [RCV000058976] |
Chr22:50626878 [GRCh38]
Chr22:51065306 [GRCh37]
Chr22:22q13.33 |
pathogenic|not provided |
| NM_000487.6(ARSA):c.661T>G (p.Phe221Val) |
single nucleotide variant |
not provided [RCV000058977] |
Chr22:50626857 [GRCh38]
Chr22:51065285 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.685C>T (p.His229Tyr) |
single nucleotide variant |
not provided [RCV000058978] |
Chr22:50626760 [GRCh38]
Chr22:51065188 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.737G>A (p.Arg246His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000150061]|not provided [RCV000058979] |
Chr22:50626708 [GRCh38]
Chr22:51065136 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|not provided |
| NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000524971]|not provided [RCV000058980] |
Chr22:50626699 [GRCh38]
Chr22:51065127 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|not provided |
| NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002247460]|not provided [RCV000058981] |
Chr22:50626690 [GRCh38]
Chr22:51065118 [GRCh37]
Chr22:22q13.33 |
pathogenic|not provided |
| NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000668155]|not provided [RCV000058982] |
Chr22:50626598 [GRCh38]
Chr22:51065026 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000487.6(ARSA):c.851A>G (p.Asn284Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002283451]|not provided [RCV000058983] |
Chr22:50626594 [GRCh38]
Chr22:51065022 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|not provided |
| NM_000487.6(ARSA):c.869G>A (p.Arg290His) |
single nucleotide variant |
ARSA-related condition [RCV003905027]|Metachromatic leukodystrophy [RCV000668693]|not provided [RCV000058984] |
Chr22:50626264 [GRCh38]
Chr22:51064692 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|not provided |
| NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000150060]|not provided [RCV000058985] |
Chr22:50626250 [GRCh38]
Chr22:51064678 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001150625]|not provided [RCV000058986] |
Chr22:50626249 [GRCh38]
Chr22:51064677 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr) |
single nucleotide variant |
not provided [RCV000058987] |
Chr22:50626246 [GRCh38]
Chr22:51064674 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001854230]|not provided [RCV000058988] |
Chr22:50626234 [GRCh38]
Chr22:51064662 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|not provided |
| NM_000487.6(ARSA):c.912G>C (p.Lys304Asn) |
single nucleotide variant |
not provided [RCV000058990] |
Chr22:50626221 [GRCh38]
Chr22:51064649 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.917C>T (p.Thr306Met) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000578460]|not provided [RCV000058991] |
Chr22:50626216 [GRCh38]
Chr22:51064644 [GRCh37]
Chr22:22q13.33 |
pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000487.6(ARSA):c.91G>A (p.Asp31Asn) |
single nucleotide variant |
not provided [RCV000058992] |
Chr22:50627689 [GRCh38]
Chr22:51066117 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.922T>C (p.Tyr308His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000670369]|not provided [RCV000058993] |
Chr22:50626211 [GRCh38]
Chr22:51064639 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001039188]|not provided [RCV000058994] |
Chr22:50626208 [GRCh38]
Chr22:51064636 [GRCh37]
Chr22:22q13.33 |
pathogenic|not provided |
| NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000695949]|not provided [RCV000058995] |
Chr22:50626204 [GRCh38]
Chr22:51064632 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance|not provided |
| NM_000487.6(ARSA):c.929G>T (p.Gly310Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000995697]|not provided [RCV000058996] |
Chr22:50626204 [GRCh38]
Chr22:51064632 [GRCh37]
Chr22:22q13.33 |
pathogenic|not provided |
| NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000984245]|not provided [RCV000058997] |
Chr22:50626195 [GRCh38]
Chr22:51064623 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|not provided |
| NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001004415]|not provided [RCV000058998] |
Chr22:50626191 [GRCh38]
Chr22:51064619 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000665708]|not provided [RCV000058999] |
Chr22:50626187 [GRCh38]
Chr22:51064615 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000487.6(ARSA):c.94G>C (p.Asp32His) |
single nucleotide variant |
not provided [RCV000059000] |
Chr22:50627686 [GRCh38]
Chr22:51066114 [GRCh37]
Chr22:22q13.33 |
not provided |
| NM_000487.6(ARSA):c.1108-2A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000078932]|not provided [RCV000482171] |
Chr22:50625683 [GRCh38]
Chr22:51064111 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1125_1126del (p.Phe376fs) |
microsatellite |
not provided [RCV000078934] |
Chr22:50625663..50625664 [GRCh38]
Chr22:51064091..51064092 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1149C>T (p.Asp383=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000335551]|not provided [RCV000675748]|not specified [RCV000078935] |
Chr22:50625640 [GRCh38]
Chr22:51064068 [GRCh37]
Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.1210+20C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001510333]|not provided [RCV000442604]|not specified [RCV000078938] |
Chr22:50625559 [GRCh38]
Chr22:51063987 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.1211-10C>T |
single nucleotide variant |
ARSA-related condition [RCV003935025]|Metachromatic leukodystrophy [RCV001087723]|not provided [RCV000078939] |
Chr22:50625474 [GRCh38]
Chr22:51063902 [GRCh37]
Chr22:22q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.1493G>A (p.Arg498His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000352286]|not provided [RCV000675745]|not specified [RCV000078941] |
Chr22:50625182 [GRCh38]
Chr22:51063610 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) |
deletion |
Metachromatic leukodystrophy [RCV000078942]|not provided [RCV000723526] |
Chr22:50627585 [GRCh38]
Chr22:51066013 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.34del (p.Ala12fs) |
deletion |
Metachromatic leukodystrophy [RCV001854393]|not provided [RCV000078944] |
Chr22:50627746 [GRCh38]
Chr22:51066174 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.459C>T (p.His153=) |
single nucleotide variant |
Citrullinemia [RCV001276283]|Metachromatic leukodystrophy [RCV000325800]|not provided [RCV000675752]|not specified [RCV000078946] |
Chr22:50627172 [GRCh38]
Chr22:51065600 [GRCh37]
Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.583del (p.Trp195fs) |
deletion |
Metachromatic leukodystrophy [RCV001251199]|not provided [RCV000078948] |
Chr22:50626935 [GRCh38]
Chr22:51065363 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) |
single nucleotide variant |
Citrullinemia [RCV001276282]|Metachromatic leukodystrophy [RCV000271273]|not provided [RCV000675751]|not specified [RCV000078949] |
Chr22:50626933 [GRCh38]
Chr22:51065361 [GRCh37]
Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.636C>T (p.Ala212=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000871089]|not provided [RCV001310817]|not specified [RCV000078950] |
Chr22:50626882 [GRCh38]
Chr22:51065310 [GRCh37]
Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.685-7C>A |
single nucleotide variant |
not provided [RCV000078951] |
Chr22:50626767 [GRCh38]
Chr22:51065195 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.986C>T (p.Thr329Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000078952]|not provided [RCV000723561] |
Chr22:50626057 [GRCh38]
Chr22:51064485 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.991G>T (p.Glu331Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000078953]|not provided [RCV000723562] |
Chr22:50626052 [GRCh38]
Chr22:51064480 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 |
copy number gain |
See cases [RCV000133646] |
Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000668820] |
Chr22:50627778 [GRCh38]
Chr22:51066206 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) |
deletion |
Metachromatic leukodystrophy [RCV000180166]|Metachromatic leukodystrophy, late infantile form [RCV002265665]|not provided [RCV000723834] |
Chr22:50625257..50625267 [GRCh38]
Chr22:51063685..51063695 [GRCh37]
Chr22:22q13.33 |
pathogenic|not provided |
| NM_000487.6(ARSA):c.-16C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001332800] |
Chr22:50627795 [GRCh38]
Chr22:51066223 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 |
copy number loss |
See cases [RCV000133859] |
Chr22:49378128..50739836 [GRCh38]
Chr22:49774048..51178264 [GRCh37]
Chr22:48160052..49525130 [NCBI36]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 |
copy number loss |
See cases [RCV000133865] |
Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 |
copy number loss |
See cases [RCV000133707] |
Chr22:49315518..50739836 [GRCh38]
Chr22:49711443..51178264 [GRCh37]
Chr22:48097447..49525130 [NCBI36]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 |
copy number gain |
See cases [RCV000134730] |
Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 |
copy number gain |
See cases [RCV000134513] |
Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33 |
pathogenic |
| GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 |
copy number loss |
See cases [RCV000135691] |
Chr22:49504768..50780581 [GRCh38]
Chr22:49898417..51203353 [GRCh37]
Chr22:48284421..49565875 [NCBI36]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 |
copy number loss |
See cases [RCV000135444] |
Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 |
copy number loss |
See cases [RCV000135615] |
Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 |
copy number gain |
See cases [RCV000136106] |
Chr22:50055303..50677724 [GRCh38]
Chr22:50493732..51116152 [GRCh37]
Chr22:48835859..49463018 [NCBI36]
Chr22:22q13.33 |
uncertain significance |
| GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 |
copy number gain |
See cases [RCV000136573] |
Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 |
copy number gain |
See cases [RCV000136124] |
Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33 |
benign |
| GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3 |
copy number gain |
See cases [RCV000136874] |
Chr22:50274967..50739836 [GRCh38]
Chr22:50713396..51178264 [GRCh37]
Chr22:49055523..49525130 [NCBI36]
Chr22:22q13.33 |
benign |
| GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 |
copy number loss |
See cases [RCV000136921] |
Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 |
copy number loss |
See cases [RCV000136941] |
Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 |
copy number gain |
See cases [RCV000137136] |
Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 |
copy number loss |
See cases [RCV000136894] |
Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 |
copy number loss |
See cases [RCV000137377] |
Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 |
copy number loss |
See cases [RCV000140089] |
Chr22:50149563..50780522 [GRCh38]
Chr22:50587992..51218950 [GRCh37]
Chr22:48930119..49565816 [NCBI36]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 |
copy number loss |
See cases [RCV000139655] |
Chr22:49535113..50780581 [GRCh38]
Chr22:49928762..51203353 [GRCh37]
Chr22:48314766..49565875 [NCBI36]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 |
copy number loss |
See cases [RCV000141415] |
Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 |
copy number loss |
See cases [RCV000140901] |
Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 |
copy number loss |
See cases [RCV000140772] |
Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 |
copy number gain |
See cases [RCV000141659] |
Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1 |
copy number loss |
See cases [RCV000142303] |
Chr22:50485457..50759410 [GRCh38]
Chr22:50923886..51197838 [GRCh37]
Chr22:49270752..49544704 [NCBI36]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 |
copy number gain |
See cases [RCV000142755] |
Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 |
copy number loss |
See cases [RCV000142589] |
Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33 |
pathogenic |
| GRCh38/hg38 22q13.33(chr22:50560890-50739829)x3 |
copy number gain |
See cases [RCV000143203] |
Chr22:50560890..50739829 [GRCh38]
Chr22:50999319..51178257 [GRCh37]
Chr22:49346185..49525123 [NCBI36]
Chr22:22q13.33 |
uncertain significance |
| GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 |
copy number loss |
See cases [RCV000143708] |
Chr22:49529760..50759410 [GRCh38]
Chr22:49923409..51197838 [GRCh37]
Chr22:48309413..49544704 [NCBI36]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 |
copy number loss |
See cases [RCV000143487] |
Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1471T>C (p.Cys491Arg) |
single nucleotide variant |
not provided [RCV000152791] |
Chr22:50625204 [GRCh38]
Chr22:51063632 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1115G>C (p.Arg372Pro) |
single nucleotide variant |
not provided [RCV000152792] |
Chr22:50625674 [GRCh38]
Chr22:51064102 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.465G>A (p.Gln155=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001850084]|not provided [RCV000152793]|not specified [RCV001582624] |
Chr22:50627166 [GRCh38]
Chr22:51065594 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) |
indel |
Metachromatic leukodystrophy [RCV000761490]|not provided [RCV000152794] |
Chr22:50627257..50627262 [GRCh38]
Chr22:51065685..51065690 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.225-5C>G |
single nucleotide variant |
not provided [RCV000152795] |
Chr22:50627411 [GRCh38]
Chr22:51065839 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000984244]|not provided [RCV000254939] |
Chr22:50627044 [GRCh38]
Chr22:51065472 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs) |
duplication |
Metachromatic leukodystrophy [RCV000169193]|not provided [RCV001008371] |
Chr22:50625182..50625183 [GRCh38]
Chr22:51063610..51063611 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.979+1G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000169323]|not provided [RCV003151752] |
Chr22:50626153 [GRCh38]
Chr22:51064581 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.240dup (p.Gly81fs) |
duplication |
Metachromatic leukodystrophy [RCV000169355] |
Chr22:50627390..50627391 [GRCh38]
Chr22:51065818..51065819 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.304del (p.Leu102fs) |
deletion |
Metachromatic leukodystrophy [RCV000169476]|Metachromatic leukodystrophy, late infantile form [RCV002265656] |
Chr22:50627327 [GRCh38]
Chr22:51065755 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) |
deletion |
Metachromatic leukodystrophy [RCV000169598]|not provided [RCV001726017] |
Chr22:50625444..50625452 [GRCh38]
Chr22:51063872..51063880 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.901C>G (p.Arg301Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000691986]|not provided [RCV000178780] |
Chr22:50626232 [GRCh38]
Chr22:51064660 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002516812]|Metachromatic leukodystrophy [RCV000293609]|not provided [RCV000675746] |
Chr22:50625341 [GRCh38]
Chr22:51063769 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) |
single nucleotide variant |
ARSA-related condition [RCV003927699]|Metachromatic leukodystrophy [RCV000388131]|not provided [RCV000180165] |
Chr22:50625228 [GRCh38]
Chr22:51063656 [GRCh37]
Chr22:22q13.33 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.640G>A (p.Ala214Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002517708]|not provided [RCV000177069] |
Chr22:50626878 [GRCh38]
Chr22:51065306 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.656G>A (p.Arg219His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002517709]|not provided [RCV000177070]|not specified [RCV002222426] |
Chr22:50626862 [GRCh38]
Chr22:51065290 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) |
copy number loss |
Phelan-McDermid syndrome [RCV000767745] |
Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001211652] |
Chr22:50625228 [GRCh38]
Chr22:51063656 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1397C>T (p.Ala466Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001859568]|not provided [RCV000372841] |
Chr22:50625278 [GRCh38]
Chr22:51063706 [GRCh37]
Chr22:22q13.33 |
uncertain significance|other |
| Single allele |
deletion |
Autism spectrum disorder [RCV000208741] |
Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1107+125C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001527487]|not provided [RCV001581179] |
Chr22:50625811 [GRCh38]
Chr22:51064239 [GRCh37]
Chr22:22q13.33 |
likely benign |
| Single allele |
deletion |
not provided [RCV000768459] |
Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1222_1232del (p.Ser408fs) |
deletion |
Metachromatic leukodystrophy [RCV000668785] |
Chr22:50625443..50625453 [GRCh38]
Chr22:51063871..51063881 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| Single allele |
deletion |
Autism spectrum disorder [RCV000208718] |
Chr22:51027581..51234443 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| Single allele |
deletion |
Autism spectrum disorder [RCV000208731] |
Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.-35_-8del |
deletion |
Metachromatic leukodystrophy [RCV000669622] |
Chr22:50627787..50627814 [GRCh38]
Chr22:51066215..51066242 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 |
copy number gain |
See cases [RCV000240091] |
Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50922386-51205985)x1 |
copy number loss |
See cases [RCV000240423] |
Chr22:50922386..51205985 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 |
copy number gain |
See cases [RCV000240469] |
Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.624T>C (p.His208=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000365831]|not provided [RCV002057364]|not specified [RCV000247255] |
Chr22:50626894 [GRCh38]
Chr22:51065322 [GRCh37]
Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.466-18G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002057363]|not specified [RCV000252078] |
Chr22:50627070 [GRCh38]
Chr22:51065498 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.598G>A (p.Glu200Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000496139] |
Chr22:50626920 [GRCh38]
Chr22:51065348 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.229G>C (p.Ala77Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000496166] |
Chr22:50627402 [GRCh38]
Chr22:51065830 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000496179] |
Chr22:50626844 [GRCh38]
Chr22:51065272 [GRCh37]
Chr22:22q13.33 |
pathogenic|conflicting interpretations of pathogenicity |
| GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 |
copy number gain |
See cases [RCV000240459] |
Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1002C>T (p.Ser334=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000305061]|not provided [RCV000675749]|not specified [RCV000303048] |
Chr22:50626041 [GRCh38]
Chr22:51064469 [GRCh37]
Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.918G>A (p.Thr306=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001078705]|not provided [RCV000306878] |
Chr22:50626215 [GRCh38]
Chr22:51064643 [GRCh37]
Chr22:22q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.932G>A (p.Gly311Asp) |
single nucleotide variant |
not provided [RCV000374972] |
Chr22:50626201 [GRCh38]
Chr22:51064629 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.930C>T (p.Gly310=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002059187]|not provided [RCV000282325] |
Chr22:50626203 [GRCh38]
Chr22:51064631 [GRCh37]
Chr22:22q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.854+5G>T |
single nucleotide variant |
not provided [RCV000319024] |
Chr22:50626586 [GRCh38]
Chr22:51065014 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.243C>T (p.Gly81=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000276455]|not provided [RCV000675753]|not specified [RCV000262492] |
Chr22:50627388 [GRCh38]
Chr22:51065816 [GRCh37]
Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.854+1G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001855074]|not provided [RCV000263067] |
Chr22:50626590 [GRCh38]
Chr22:51065018 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.926A>T (p.Glu309Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002527037]|not provided [RCV000489590] |
Chr22:50626207 [GRCh38]
Chr22:51064635 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1441C>T (p.Arg481Trp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001279637] |
Chr22:50625234 [GRCh38]
Chr22:51063662 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.466-7G>C |
single nucleotide variant |
ARSA-related condition [RCV003972814]|Metachromatic leukodystrophy [RCV001083981]|not provided [RCV000487951] |
Chr22:50627059 [GRCh38]
Chr22:51065487 [GRCh37]
Chr22:22q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.1030del (p.Ala344fs) |
deletion |
Metachromatic leukodystrophy [RCV002286592] |
Chr22:50626013 [GRCh38]
Chr22:51064441 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*1213T>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000264560] |
Chr22:50623932 [GRCh38]
Chr22:51062360 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*503A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000266597] |
Chr22:50624642 [GRCh38]
Chr22:51063070 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.*332C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000267037] |
Chr22:50624813 [GRCh38]
Chr22:51063241 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*2088CCT[1] |
microsatellite |
Metachromatic leukodystrophy [RCV000269167] |
Chr22:50623052..50623054 [GRCh38]
Chr22:51061480..51061482 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1351C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000270537] |
Chr22:50623794 [GRCh38]
Chr22:51062222 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.*130C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000272762] |
Chr22:50625015 [GRCh38]
Chr22:51063443 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*2301T>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000275009] |
Chr22:50622844 [GRCh38]
Chr22:51061272 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.-136C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000279115]|not specified [RCV000607249] |
Chr22:50627915 [GRCh38]
Chr22:51066343 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.*1570C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000279470] |
Chr22:50623575 [GRCh38]
Chr22:51062003 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.*919A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000281321] |
Chr22:50624226 [GRCh38]
Chr22:51062654 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.-20G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000282293] |
Chr22:50627799 [GRCh38]
Chr22:51066227 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.-224C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000285046] |
Chr22:50628003 [GRCh38]
Chr22:51066431 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1627G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000285194] |
Chr22:50623518 [GRCh38]
Chr22:51061946 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1076A>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000287418] |
Chr22:50624069 [GRCh38]
Chr22:51062497 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.*1769A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000291332] |
Chr22:50623376 [GRCh38]
Chr22:51061804 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.*794C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000294592] |
Chr22:50624351 [GRCh38]
Chr22:51062779 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*2374C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000299834] |
Chr22:50622771 [GRCh38]
Chr22:51061199 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000301678] |
Chr22:50626859 [GRCh38]
Chr22:51065287 [GRCh37]
Chr22:22q13.33 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.*635G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000301794] |
Chr22:50624510 [GRCh38]
Chr22:51062938 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.*342A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000305439] |
Chr22:50624803 [GRCh38]
Chr22:51063231 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*729C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000307463] |
Chr22:50624416 [GRCh38]
Chr22:51062844 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.-355G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000309634] |
Chr22:50628134 [GRCh38]
Chr22:51066562 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1475C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000311135] |
Chr22:50623670 [GRCh38]
Chr22:51062098 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1372G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000315349] |
Chr22:50623773 [GRCh38]
Chr22:51062201 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1062dup |
duplication |
Metachromatic leukodystrophy [RCV000316732] |
Chr22:50624082..50624083 [GRCh38]
Chr22:51062510..51062511 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1746G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000320648] |
Chr22:50623399 [GRCh38]
Chr22:51061827 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.*293C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000322138] |
Chr22:50624852 [GRCh38]
Chr22:51063280 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1212T>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000322517] |
Chr22:50623933 [GRCh38]
Chr22:51062361 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*2023G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000326377] |
Chr22:50623122 [GRCh38]
Chr22:51061550 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*125C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000327902] |
Chr22:50625020 [GRCh38]
Chr22:51063448 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1267C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000327939] |
Chr22:50623878 [GRCh38]
Chr22:51062306 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.225-5C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000331507] |
Chr22:50627411 [GRCh38]
Chr22:51065839 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.*2259G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000332511] |
Chr22:50622886 [GRCh38]
Chr22:51061314 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1522C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000336859] |
Chr22:50623623 [GRCh38]
Chr22:51062051 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.-88G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000337190] |
Chr22:50627867 [GRCh38]
Chr22:51066295 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*874T>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000338722] |
Chr22:50624271 [GRCh38]
Chr22:51062699 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.-330C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000339802] |
Chr22:50628109 [GRCh38]
Chr22:51066537 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1617G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000342435] |
Chr22:50623528 [GRCh38]
Chr22:51061956 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.-142G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000343434] |
Chr22:50627921 [GRCh38]
Chr22:51066349 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*682G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000346142] |
Chr22:50624463 [GRCh38]
Chr22:51062891 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000348572] |
Chr22:50625417 [GRCh38]
Chr22:51063845 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*777C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000351804] |
Chr22:50624368 [GRCh38]
Chr22:51062796 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.*340T>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000353274] |
Chr22:50624805 [GRCh38]
Chr22:51063233 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.*2316C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000356971] |
Chr22:50622829 [GRCh38]
Chr22:51061257 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*625G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000358906] |
Chr22:50624520 [GRCh38]
Chr22:51062948 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.663C>T (p.Phe221=) |
single nucleotide variant |
ARSA-related condition [RCV003950193]|Metachromatic leukodystrophy [RCV000359843] |
Chr22:50626855 [GRCh38]
Chr22:51065283 [GRCh37]
Chr22:22q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.*1369C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000363091] |
Chr22:50623776 [GRCh38]
Chr22:51062204 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.-362G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000364277] |
Chr22:50628141 [GRCh38]
Chr22:51066569 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000984243]|not provided [RCV000364716] |
Chr22:50627285 [GRCh38]
Chr22:51065713 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.*1238T>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000366223] |
Chr22:50623907 [GRCh38]
Chr22:51062335 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1404dup |
duplication |
Metachromatic leukodystrophy [RCV000368844] |
Chr22:50623740..50623741 [GRCh38]
Chr22:51062168..51062169 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*2205A>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000370691] |
Chr22:50622940 [GRCh38]
Chr22:51061368 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.-131G>A |
single nucleotide variant |
ARSA-related condition [RCV003957769]|Metachromatic leukodystrophy [RCV000373219] |
Chr22:50627910 [GRCh38]
Chr22:51066338 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.*1012C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000373494] |
Chr22:50624133 [GRCh38]
Chr22:51062561 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*191C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000376714] |
Chr22:50624954 [GRCh38]
Chr22:51063382 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1629A>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000377359] |
Chr22:50623516 [GRCh38]
Chr22:51061944 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1206G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000379497] |
Chr22:50623939 [GRCh38]
Chr22:51062367 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*103C>T |
single nucleotide variant |
ARSA-related condition [RCV003950192]|Metachromatic leukodystrophy [RCV000382356] |
Chr22:50625042 [GRCh38]
Chr22:51063470 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.*1987G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000383287] |
Chr22:50623158 [GRCh38]
Chr22:51061586 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.25C>T (p.Leu9Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000385983] |
Chr22:50627755 [GRCh38]
Chr22:51066183 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.369C>T (p.Ala123=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000389729] |
Chr22:50627262 [GRCh38]
Chr22:51065690 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.1211-15T>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000393936] |
Chr22:50625479 [GRCh38]
Chr22:51063907 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.*643T>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000405496] |
Chr22:50624502 [GRCh38]
Chr22:51062930 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1372G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000406407] |
Chr22:50623773 [GRCh38]
Chr22:51062201 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1476G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000407062] |
Chr22:50623669 [GRCh38]
Chr22:51062097 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1576A>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000407079] |
Chr22:50623569 [GRCh38]
Chr22:51061997 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.-159C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000407161] |
Chr22:50627938 [GRCh38]
Chr22:51066366 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.-345G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000407201]|not provided [RCV001594978] |
Chr22:50628124 [GRCh38]
Chr22:51066552 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.*741C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000407824] |
Chr22:50624404 [GRCh38]
Chr22:51062832 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.*855G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000407866] |
Chr22:50624290 [GRCh38]
Chr22:51062718 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.245G>A (p.Arg82Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000626198] |
Chr22:50627386 [GRCh38]
Chr22:51065814 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.329C>T (p.Ala110Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001232558]|not provided [RCV000598543] |
Chr22:50627302 [GRCh38]
Chr22:51065730 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1337del (p.Gly446fs) |
deletion |
Metachromatic leukodystrophy [RCV000669837]|not provided [RCV000585005] |
Chr22:50625338 [GRCh38]
Chr22:51063766 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.418dup (p.His140fs) |
duplication |
Inborn genetic diseases [RCV001265855]|Metachromatic leukodystrophy [RCV000409085]|not provided [RCV000598862] |
Chr22:50627212..50627213 [GRCh38]
Chr22:51065640..51065641 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.674_675dup (p.Ala226fs) |
duplication |
Metachromatic leukodystrophy [RCV000409278] |
Chr22:50626842..50626843 [GRCh38]
Chr22:51065270..51065271 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.979G>A (p.Gly327Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002523904]|Metachromatic leukodystrophy [RCV000984246]|not provided [RCV000414752] |
Chr22:50626154 [GRCh38]
Chr22:51064582 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.526C>T (p.Gln176Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000409359] |
Chr22:50626992 [GRCh38]
Chr22:51065420 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.466-2A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000409478] |
Chr22:50627054 [GRCh38]
Chr22:51065482 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1388del (p.Leu463fs) |
deletion |
Metachromatic leukodystrophy [RCV000409867] |
Chr22:50625287 [GRCh38]
Chr22:51063715 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.545del (p.Pro182fs) |
deletion |
Metachromatic leukodystrophy [RCV000409957] |
Chr22:50626973 [GRCh38]
Chr22:51065401 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.421C>T (p.Gln141Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000410152] |
Chr22:50627210 [GRCh38]
Chr22:51065638 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.211_212del (p.Cys71fs) |
microsatellite |
Metachromatic leukodystrophy [RCV000410209] |
Chr22:50627568..50627569 [GRCh38]
Chr22:51065996..51065997 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.929del (p.Gly310fs) |
deletion |
Metachromatic leukodystrophy [RCV000410340] |
Chr22:50626204 [GRCh38]
Chr22:51064632 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1107+1del |
deletion |
Metachromatic leukodystrophy [RCV000410748] |
Chr22:50625935 [GRCh38]
Chr22:51064363 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.495_501del (p.Pro166fs) |
deletion |
Metachromatic leukodystrophy [RCV000410974]|not provided [RCV001008063] |
Chr22:50627017..50627023 [GRCh38]
Chr22:51065445..51065451 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.325G>A (p.Val109Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002521481]|Metachromatic leukodystrophy [RCV001224892]|not provided [RCV000416118] |
Chr22:50627306 [GRCh38]
Chr22:51065734 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1210+1G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000411066] |
Chr22:50625578 [GRCh38]
Chr22:51064006 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.227_228insTA (p.Ala77fs) |
insertion |
Metachromatic leukodystrophy [RCV000411185] |
Chr22:50627403..50627404 [GRCh38]
Chr22:51065831..51065832 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.979_979+3del |
deletion |
Metachromatic leukodystrophy [RCV000411535] |
Chr22:50626151..50626154 [GRCh38]
Chr22:51064579..51064582 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.891del (p.Gly298fs) |
deletion |
Metachromatic leukodystrophy [RCV000411756] |
Chr22:50626242 [GRCh38]
Chr22:51064670 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.418del (p.His140fs) |
deletion |
Metachromatic leukodystrophy [RCV000411769] |
Chr22:50627213 [GRCh38]
Chr22:51065641 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1492dup (p.Arg498fs) |
duplication |
Metachromatic leukodystrophy [RCV000411861]|not provided [RCV001821136] |
Chr22:50625182..50625183 [GRCh38]
Chr22:51063610..51063611 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.494dup (p.Pro166fs) |
duplication |
Metachromatic leukodystrophy [RCV000412016] |
Chr22:50627023..50627024 [GRCh38]
Chr22:51065451..51065452 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) |
copy number loss |
Phelan-McDermid syndrome [RCV000767671] |
Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:51032758-51061541)x1 |
copy number loss |
See cases [RCV000449123] |
Chr22:51032758..51061541 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 |
copy number loss |
See cases [RCV000449140] |
Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 |
copy number gain |
See cases [RCV000446956] |
Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 |
copy number loss |
See cases [RCV000446928] |
Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:51063432-51066408)x3 |
copy number gain |
See cases [RCV000447242] |
Chr22:51063432..51066408 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q13.33(chr22:50941373-51066468)x3 |
copy number gain |
See cases [RCV000447418] |
Chr22:50941373..51066468 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.854+3A>G |
single nucleotide variant |
not provided [RCV000427149] |
Chr22:50626588 [GRCh38]
Chr22:51065016 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 |
copy number loss |
See cases [RCV000447857] |
Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 |
copy number gain |
See cases [RCV000448847] |
Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.302del (p.Gly101fs) |
deletion |
Metachromatic leukodystrophy [RCV003607294]|not provided [RCV000483135] |
Chr22:50627329 [GRCh38]
Chr22:51065757 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1472G>A (p.Cys491Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000477902] |
Chr22:50625203 [GRCh38]
Chr22:51063631 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer) |
deletion |
Metachromatic leukodystrophy [RCV000673517]|not provided [RCV000483720] |
Chr22:50625411 [GRCh38]
Chr22:51063839 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 |
copy number loss |
See cases [RCV000512121] |
Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000501028]|not provided [RCV000760416] |
Chr22:50626196 [GRCh38]
Chr22:51064624 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1274A>G (p.His425Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000496135] |
Chr22:50625401 [GRCh38]
Chr22:51063829 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.852T>A (p.Asn284Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000496194] |
Chr22:50626593 [GRCh38]
Chr22:51065021 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.545C>G (p.Pro182Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000496198] |
Chr22:50626973 [GRCh38]
Chr22:51065401 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.98T>C (p.Leu33Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000496199] |
Chr22:50627682 [GRCh38]
Chr22:51066110 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 |
copy number loss |
See cases [RCV000510342] |
Chr22:49628164..51197838 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 |
copy number loss |
See cases [RCV000510351] |
Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 |
copy number loss |
See cases [RCV000511340] |
Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50716021-51157531)x3 |
copy number gain |
See cases [RCV000511797] |
Chr22:50716021..51157531 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 |
copy number loss |
See cases [RCV000511993] |
Chr22:49305443..51197838 [GRCh37]
Chr22:22q13.32-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 |
copy number loss |
See cases [RCV000511220] |
Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 |
copy number loss |
See cases [RCV000511256] |
Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 |
copy number loss |
See cases [RCV000510765] |
Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) |
copy number gain |
See cases [RCV000510873] |
Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.465+2T>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000669056] |
Chr22:50627164 [GRCh38]
Chr22:51065592 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 |
copy number loss |
See cases [RCV000511015] |
Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1181G>A (p.Gly394Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003290373] |
Chr22:50625608 [GRCh38]
Chr22:51064036 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.224+8G>A |
single nucleotide variant |
ARSA-related condition [RCV003962468]|Metachromatic leukodystrophy [RCV000526785] |
Chr22:50627548 [GRCh38]
Chr22:51065976 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 |
copy number loss |
See cases [RCV000512145] |
Chr22:50145416..51197838 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 |
copy number gain |
See cases [RCV000512333] |
Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000588032] |
Chr22:50626173 [GRCh38]
Chr22:51064601 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.684+2dup |
duplication |
Metachromatic leukodystrophy [RCV000673398] |
Chr22:50626831..50626832 [GRCh38]
Chr22:51065259..51065260 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.679T>C (p.Ser227Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000631448] |
Chr22:50626839 [GRCh38]
Chr22:51065267 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NC_000022.11:g.(?_50625125)_(50627799_?)del |
deletion |
Metachromatic leukodystrophy [RCV000631450] |
Chr22:50625125..50627799 [GRCh38]
Chr22:51063553..51066227 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002531300]|Metachromatic leukodystrophy [RCV000671936]|not specified [RCV002282317] |
Chr22:50626052 [GRCh38]
Chr22:51064480 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.514G>A (p.Gly172Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000672054] |
Chr22:50627004 [GRCh38]
Chr22:51065432 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.257G>T (p.Arg86Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000672928] |
Chr22:50627374 [GRCh38]
Chr22:51065802 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.206_209del (p.Ser69fs) |
deletion |
Metachromatic leukodystrophy [RCV000664482] |
Chr22:50627571..50627574 [GRCh38]
Chr22:51065999..51066002 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.618C>T (p.Phe206=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001439988]|not provided [RCV000675750] |
Chr22:50626900 [GRCh38]
Chr22:51065328 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.622del (p.His208fs) |
deletion |
Metachromatic leukodystrophy [RCV000672593] |
Chr22:50626896 [GRCh38]
Chr22:51065324 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.109_116del (p.Asp37fs) |
deletion |
Metachromatic leukodystrophy [RCV000670737]|not provided [RCV003328618] |
Chr22:50627664..50627671 [GRCh38]
Chr22:51066092..51066099 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1323del (p.Asn440_Tyr441insTer) |
deletion |
Metachromatic leukodystrophy [RCV000669753] |
Chr22:50625352 [GRCh38]
Chr22:51063780 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000671583]|not provided [RCV001756138]|not specified [RCV000780861] |
Chr22:50627645 [GRCh38]
Chr22:51066073 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.758dup (p.Met254fs) |
duplication |
Metachromatic leukodystrophy [RCV000668073] |
Chr22:50626686..50626687 [GRCh38]
Chr22:51065114..51065115 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.542dup (p.Leu183fs) |
duplication |
Metachromatic leukodystrophy [RCV000674138] |
Chr22:50626975..50626976 [GRCh38]
Chr22:51065403..51065404 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.980-2A>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000672005] |
Chr22:50626065 [GRCh38]
Chr22:51064493 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.224+1G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000668533] |
Chr22:50627555 [GRCh38]
Chr22:51065983 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.925dup (p.Glu309fs) |
duplication |
Metachromatic leukodystrophy [RCV000674527] |
Chr22:50626207..50626208 [GRCh38]
Chr22:51064635..51064636 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.295dup (p.Arg99fs) |
duplication |
Metachromatic leukodystrophy [RCV000670248] |
Chr22:50627335..50627336 [GRCh38]
Chr22:51065763..51065764 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.109_126dup (p.Asp37_Gly42dup) |
duplication |
Metachromatic leukodystrophy [RCV000672365] |
Chr22:50627653..50627654 [GRCh38]
Chr22:51066081..51066082 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1108-3C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000667567] |
Chr22:50625684 [GRCh38]
Chr22:51064112 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000672436] |
Chr22:50627380 [GRCh38]
Chr22:51065808 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.1344dup (p.Gly449fs) |
duplication |
Metachromatic leukodystrophy [RCV000674168] |
Chr22:50625330..50625331 [GRCh38]
Chr22:51063758..51063759 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.225-2A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000674241] |
Chr22:50627408 [GRCh38]
Chr22:51065836 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1036del (p.Ala346fs) |
deletion |
Metachromatic leukodystrophy [RCV000667899] |
Chr22:50626007 [GRCh38]
Chr22:51064435 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1490_1492del (p.Pro497del) |
deletion |
Metachromatic leukodystrophy [RCV000673639] |
Chr22:50625183..50625185 [GRCh38]
Chr22:51063611..51063613 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.-15A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000666219] |
Chr22:50627794 [GRCh38]
Chr22:51066222 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.185_186dup (p.Asp63fs) |
microsatellite |
Metachromatic leukodystrophy [RCV000674033] |
Chr22:50627593..50627594 [GRCh38]
Chr22:51066021..51066022 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.877C>T (p.Arg293Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000674946] |
Chr22:50626256 [GRCh38]
Chr22:51064684 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.398_409del (p.Glu133_Leu137delinsVal) |
deletion |
Metachromatic leukodystrophy [RCV000673706] |
Chr22:50627222..50627233 [GRCh38]
Chr22:51065650..51065661 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.604C>T (p.Arg202Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000667546]|not provided [RCV001766441] |
Chr22:50626914 [GRCh38]
Chr22:51065342 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 |
copy number loss |
not provided [RCV000684522] |
Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 |
copy number loss |
not provided [RCV000684523] |
Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 |
copy number loss |
not provided [RCV000684524] |
Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 |
copy number loss |
not provided [RCV000684525] |
Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 |
copy number loss |
not provided [RCV000684526] |
Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 |
copy number loss |
not provided [RCV000684527] |
Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 |
copy number loss |
not provided [RCV000684528] |
Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 |
copy number loss |
not provided [RCV000684529] |
Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 |
copy number loss |
not provided [RCV000684487] |
Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50973975-51183840)x1 |
copy number loss |
not provided [RCV000684461] |
Chr22:50973975..51183840 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1 |
copy number loss |
not provided [RCV000684479] |
Chr22:50613566..51197838 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 |
copy number loss |
not provided [RCV000684488] |
Chr22:50134203..51183840 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.610A>G (p.Met204Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000693679]|not provided [RCV002284428] |
Chr22:50626908 [GRCh38]
Chr22:51065336 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.902G>A (p.Arg301Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000688435] |
Chr22:50626231 [GRCh38]
Chr22:51064659 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.449C>G (p.Pro150Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000698866] |
Chr22:50627182 [GRCh38]
Chr22:51065610 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.867G>A (p.Met289Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000704107] |
Chr22:50626266 [GRCh38]
Chr22:51064694 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| Single allele |
duplication |
Primary amenorrhea [RCV000754473] |
Chr22:51059148..51146462 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 |
copy number gain |
not provided [RCV000741689] |
Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 |
copy number gain |
not provided [RCV000741691] |
Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 |
copy number loss |
not provided [RCV000741989] |
Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 |
copy number loss |
not provided [RCV000742061] |
Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 |
copy number loss |
not provided [RCV000742062] |
Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 |
copy number loss |
not provided [RCV000742071] |
Chr22:49313561..51195728 [GRCh37]
Chr22:22q13.32-13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1 |
copy number loss |
not provided [RCV000742097] |
Chr22:50627704..51211392 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 |
copy number gain |
not provided [RCV000741692] |
Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:51024308-51243435)x1 |
copy number loss |
not provided [RCV000742123] |
Chr22:51024308..51243435 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.273T>G (p.Pro91=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001490626] |
Chr22:50627358 [GRCh38]
Chr22:51065786 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1228_1229del (p.Thr410fs) |
deletion |
Metachromatic leukodystrophy [RCV001532933] |
Chr22:50625446..50625447 [GRCh38]
Chr22:51063874..51063875 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.222T>C (p.Ser74=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001450281] |
Chr22:50627558 [GRCh38]
Chr22:51065986 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NC_000022.11:g.50628197del |
deletion |
not provided [RCV001668844] |
Chr22:50628193 [GRCh38]
Chr22:51066621 [GRCh37]
Chr22:22q13.33 |
benign |
| NC_000022.11:g.50628190GCCGGGGGCGGG[1] |
microsatellite |
not provided [RCV001679739] |
Chr22:50628182..50628205 [GRCh38]
Chr22:51066610..51066633 [GRCh37]
Chr22:22q13.33 |
benign |
| GRCh37/hg19 22q13.33(chr22:50966042-51090760)x1 |
copy number loss |
not provided [RCV001007196] |
Chr22:50966042..51090760 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1714G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001148874] |
Chr22:50623431 [GRCh38]
Chr22:51061859 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1434G>C (p.Gln478His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001149123] |
Chr22:50625241 [GRCh38]
Chr22:51063669 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.488G>C (p.Cys163Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001580606] |
Chr22:50627030 [GRCh38]
Chr22:51065458 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.276C>T (p.Gly92=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001559153] |
Chr22:50627355 [GRCh38]
Chr22:51065783 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.73A>G (p.Ile25Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001559156] |
Chr22:50627707 [GRCh38]
Chr22:51066135 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.854+100G>A |
single nucleotide variant |
not provided [RCV001612136] |
Chr22:50626491 [GRCh38]
Chr22:51064919 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.-343C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001149235] |
Chr22:50628122 [GRCh38]
Chr22:51066550 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.684+1G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001174677]|not provided [RCV001090367] |
Chr22:50626833 [GRCh38]
Chr22:51065261 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.592G>A (p.Gly198Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002553864]|Metachromatic leukodystrophy [RCV001059607] |
Chr22:50626926 [GRCh38]
Chr22:51065354 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000902745]|not provided [RCV002269326] |
Chr22:50625188 [GRCh38]
Chr22:51063616 [GRCh37]
Chr22:22q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.1107+9G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000929561] |
Chr22:50625927 [GRCh38]
Chr22:51064355 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.224+10G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000928623] |
Chr22:50627546 [GRCh38]
Chr22:51065974 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.982G>A (p.Val328Met) |
single nucleotide variant |
ARSA-related condition [RCV003958169]|Metachromatic leukodystrophy [RCV000902711]|not provided [RCV001702069] |
Chr22:50626061 [GRCh38]
Chr22:51064489 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.1455C>T (p.Pro485=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000904671] |
Chr22:50625220 [GRCh38]
Chr22:51063648 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1087dup (p.Leu363fs) |
duplication |
Metachromatic leukodystrophy [RCV001064269] |
Chr22:50625955..50625956 [GRCh38]
Chr22:51064383..51064384 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.5(ARSA):c.467del |
deletion |
Metachromatic leukodystrophy [RCV001061823] |
Chr22:50627051 [GRCh38]
Chr22:51065479 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.488G>A (p.Cys163Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001036546] |
Chr22:50627030 [GRCh38]
Chr22:51065458 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.157C>T (p.Gln53Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000807270] |
Chr22:50627623 [GRCh38]
Chr22:51066051 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) |
copy number loss |
not provided [RCV000767746] |
Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1251C>T (p.His417=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000873115] |
Chr22:50625424 [GRCh38]
Chr22:51063852 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.309C>T (p.Pro103=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000981613] |
Chr22:50627322 [GRCh38]
Chr22:51065750 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.582C>T (p.Pro194=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000978858] |
Chr22:50626936 [GRCh38]
Chr22:51065364 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.414C>G (p.Pro138=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000980925] |
Chr22:50627217 [GRCh38]
Chr22:51065645 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.937C>A (p.Arg313=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000940969] |
Chr22:50626196 [GRCh38]
Chr22:51064624 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.990C>T (p.His330=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001279639] |
Chr22:50626053 [GRCh38]
Chr22:51064481 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1260C>T (p.Ser420=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001436392] |
Chr22:50625415 [GRCh38]
Chr22:51063843 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.327G>A (p.Val109=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000981273] |
Chr22:50627304 [GRCh38]
Chr22:51065732 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.244del (p.Arg82fs) |
deletion |
Metachromatic leukodystrophy [RCV000780862] |
Chr22:50627387 [GRCh38]
Chr22:51065815 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.499G>T (p.Ala167Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000807563] |
Chr22:50627019 [GRCh38]
Chr22:51065447 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.355C>G (p.Leu119Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000803498] |
Chr22:50627276 [GRCh38]
Chr22:51065704 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1157G>C (p.Arg386Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000821897] |
Chr22:50625632 [GRCh38]
Chr22:51064060 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.5(ARSA):c.-714C>T |
single nucleotide variant |
not provided [RCV000831273] |
Chr22:50628493 [GRCh38]
Chr22:51066921 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.*1825C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146082] |
Chr22:50623320 [GRCh38]
Chr22:51061748 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 |
copy number gain |
not provided [RCV000846659] |
Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*624G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001150506] |
Chr22:50624521 [GRCh38]
Chr22:51062949 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.231_232delinsTT (p.Leu78Phe) |
indel |
Metachromatic leukodystrophy [RCV000791549] |
Chr22:50627399..50627400 [GRCh38]
Chr22:51065827..51065828 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 |
copy number gain |
not provided [RCV001007181] |
Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*2065C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146079] |
Chr22:50623080 [GRCh38]
Chr22:51061508 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.296G>A (p.Arg99Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146459] |
Chr22:50627335 [GRCh38]
Chr22:51065763 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 |
copy number loss |
not provided [RCV001007506] |
Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1046del (p.Pro349fs) |
deletion |
Metachromatic leukodystrophy [RCV000818754] |
Chr22:50625997 [GRCh38]
Chr22:51064425 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.972C>T (p.Ile324=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000873082] |
Chr22:50626161 [GRCh38]
Chr22:51064589 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.345C>G (p.Ala115=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000980926] |
Chr22:50627286 [GRCh38]
Chr22:51065714 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.564C>T (p.Ser188=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000873116] |
Chr22:50626954 [GRCh38]
Chr22:51065382 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1006C>T (p.Leu336=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000941010] |
Chr22:50626037 [GRCh38]
Chr22:51064465 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.247C>T (p.Leu83Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000802259] |
Chr22:50627384 [GRCh38]
Chr22:51065812 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) |
single nucleotide variant |
Autosomal recessive sideroblastic anemia [RCV000785079]|Metachromatic leukodystrophy [RCV001090126] |
Chr22:50626186 [GRCh38]
Chr22:51064614 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1345G>A (p.Gly449Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000918415] |
Chr22:50625330 [GRCh38]
Chr22:51063758 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.980-10C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001404280] |
Chr22:50626073 [GRCh38]
Chr22:51064501 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NC_000022.11:g.50627059C>G |
single nucleotide variant |
not provided [RCV000827000] |
Chr22:51065487 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.297G>C (p.Arg99=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000978172] |
Chr22:50627334 [GRCh38]
Chr22:51065762 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001060881]|not provided [RCV001759817] |
Chr22:50625182 [GRCh38]
Chr22:51063610 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.*992G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146198] |
Chr22:50624153 [GRCh38]
Chr22:51062581 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.*127A>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146319] |
Chr22:50625018 [GRCh38]
Chr22:51063446 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*15G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146320]|not provided [RCV001561920] |
Chr22:50625130 [GRCh38]
Chr22:51063558 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.971T>C (p.Ile324Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001052408] |
Chr22:50626162 [GRCh38]
Chr22:51064590 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 |
copy number gain |
not provided [RCV000849204] |
Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 |
copy number loss |
not provided [RCV001007508] |
Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1286T>C (p.Leu429Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001200925] |
Chr22:50625389 [GRCh38]
Chr22:51063817 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.179G>C (p.Arg60Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001172247]|not provided [RCV001759675] |
Chr22:50627601 [GRCh38]
Chr22:51066029 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.712C>T (p.Gln238Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001172251] |
Chr22:50626733 [GRCh38]
Chr22:51065161 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 |
copy number gain |
not provided [RCV001007194] |
Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.302dup (p.Leu102fs) |
duplication |
Metachromatic leukodystrophy [RCV001193047] |
Chr22:50627328..50627329 [GRCh38]
Chr22:51065756..51065757 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.925G>T (p.Glu309Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001193048] |
Chr22:50626208 [GRCh38]
Chr22:51064636 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1162G>T (p.Val388Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001231567] |
Chr22:50625627 [GRCh38]
Chr22:51064055 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.419A>T (p.His140Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001238944] |
Chr22:50627212 [GRCh38]
Chr22:51065640 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 |
copy number gain |
not provided [RCV000846344] |
Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.451dup (p.Tyr151fs) |
duplication |
Metachromatic leukodystrophy [RCV001224526] |
Chr22:50627179..50627180 [GRCh38]
Chr22:51065607..51065608 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1007T>C (p.Leu336Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001250459] |
Chr22:50626036 [GRCh38]
Chr22:51064464 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.825G>T (p.Glu275Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003246812]|Metachromatic leukodystrophy [RCV001246742] |
Chr22:50626620 [GRCh38]
Chr22:51065048 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.700C>T (p.Gln234Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001250457] |
Chr22:50626745 [GRCh38]
Chr22:51065173 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001250460]|not provided [RCV001573988] |
Chr22:50625964 [GRCh38]
Chr22:51064392 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.781G>A (p.Gly261Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001226279] |
Chr22:50626664 [GRCh38]
Chr22:51065092 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.677C>A (p.Ala226Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000995698] |
Chr22:50626841 [GRCh38]
Chr22:51065269 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.225-4G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146460] |
Chr22:50627410 [GRCh38]
Chr22:51065838 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.190T>A (p.Phe64Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001250795] |
Chr22:50627590 [GRCh38]
Chr22:51066018 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.836_837delinsAA (p.Ile279Lys) |
indel |
Metachromatic leukodystrophy [RCV001250458] |
Chr22:50626608..50626609 [GRCh38]
Chr22:51065036..51065037 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1123_1126del (p.Leu375fs) |
microsatellite |
Metachromatic leukodystrophy [RCV001250461] |
Chr22:50625663..50625666 [GRCh38]
Chr22:51064091..51064094 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*1477C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001150396] |
Chr22:50623668 [GRCh38]
Chr22:51062096 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.632T>C (p.Met211Thr) |
single nucleotide variant |
not provided [RCV001090368] |
Chr22:50626886 [GRCh38]
Chr22:51065314 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.*1171A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001144304] |
Chr22:50623974 [GRCh38]
Chr22:51062402 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.495G>A (p.Pro165=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001144537]|not provided [RCV001253878]|not specified [RCV001700979] |
Chr22:50627023 [GRCh38]
Chr22:51065451 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.*1712C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001148875] |
Chr22:50623433 [GRCh38]
Chr22:51061861 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1969C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146081] |
Chr22:50623176 [GRCh38]
Chr22:51061604 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.938G>T (p.Arg313Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003123351] |
Chr22:50626195 [GRCh38]
Chr22:51064623 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*73G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001559155] |
Chr22:50625072 [GRCh38]
Chr22:51063500 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.684C>T (p.His228=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001559157] |
Chr22:50626834 [GRCh38]
Chr22:51065262 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1108-60C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001827552]|not provided [RCV001639030] |
Chr22:50625741 [GRCh38]
Chr22:51064169 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.1210+13C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002072341]|not provided [RCV001589955] |
Chr22:50625566 [GRCh38]
Chr22:51063994 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.633G>A (p.Met211Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001866259]|not provided [RCV001620225] |
Chr22:50626885 [GRCh38]
Chr22:51065313 [GRCh37]
Chr22:22q13.33 |
benign|uncertain significance |
| NM_000487.6(ARSA):c.14C>T (p.Ala5Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001832837]|not provided [RCV001665208] |
Chr22:50627766 [GRCh38]
Chr22:51066194 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.854+121C>T |
single nucleotide variant |
not provided [RCV001656831] |
Chr22:50626470 [GRCh38]
Chr22:51064898 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.854+156dup |
duplication |
not provided [RCV001719661] |
Chr22:50626434..50626435 [GRCh38]
Chr22:51064862..51064863 [GRCh37]
Chr22:22q13.33 |
benign |
| NC_000022.11:g.50628271T>C |
single nucleotide variant |
not provided [RCV001715444] |
Chr22:50628271 [GRCh38]
Chr22:51066699 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.530G>A (p.Gly177Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000902725] |
Chr22:50626988 [GRCh38]
Chr22:51065416 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.510C>T (p.Cys170=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000978192] |
Chr22:50627008 [GRCh38]
Chr22:51065436 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.228C>T (p.Ala76=) |
single nucleotide variant |
ARSA-related condition [RCV003968348]|Metachromatic leukodystrophy [RCV000908014] |
Chr22:50627403 [GRCh38]
Chr22:51065831 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.6C>T (p.Ser2=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001437312] |
Chr22:50627774 [GRCh38]
Chr22:51066202 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000901101]|not provided [RCV002051904] |
Chr22:50625350 [GRCh38]
Chr22:51063778 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.720T>C (p.Phe240=) |
single nucleotide variant |
not provided [RCV000980313] |
Chr22:50626725 [GRCh38]
Chr22:51065153 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.588G>A (p.Leu196=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000919361] |
Chr22:50626930 [GRCh38]
Chr22:51065358 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1332G>T (p.Leu444=) |
single nucleotide variant |
ARSA-related condition [RCV003948386]|Metachromatic leukodystrophy [RCV000887581] |
Chr22:50625343 [GRCh38]
Chr22:51063771 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.900G>A (p.Leu300=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000941654] |
Chr22:50626233 [GRCh38]
Chr22:51064661 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.696C>T (p.Tyr232=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001491499] |
Chr22:50626749 [GRCh38]
Chr22:51065177 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1155C>T (p.Val385=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001451233] |
Chr22:50625634 [GRCh38]
Chr22:51064062 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.591C>T (p.Pro197=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001440752] |
Chr22:50626927 [GRCh38]
Chr22:51065355 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1297C>G (p.Leu433Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000951013] |
Chr22:50625378 [GRCh38]
Chr22:51063806 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.828G>A (p.Thr276=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV000938790] |
Chr22:50626617 [GRCh38]
Chr22:51065045 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.279C>T (p.Val93=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001478188] |
Chr22:50627352 [GRCh38]
Chr22:51065780 [GRCh37]
Chr22:22q13.33 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001144538] |
Chr22:50627197 [GRCh38]
Chr22:51065625 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.956_958del (p.Phe319del) |
deletion |
Metachromatic leukodystrophy [RCV001172254] |
Chr22:50626175..50626177 [GRCh38]
Chr22:51064603..51064605 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*2037C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146080] |
Chr22:50623108 [GRCh38]
Chr22:51061536 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*10G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146321] |
Chr22:50625135 [GRCh38]
Chr22:51063563 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.151C>G (p.Leu51Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146461] |
Chr22:50627629 [GRCh38]
Chr22:51066057 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.296G>C (p.Arg99Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001239938] |
Chr22:50627335 [GRCh38]
Chr22:51065763 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.343G>A (p.Ala115Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001063277] |
Chr22:50627288 [GRCh38]
Chr22:51065716 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001172255] |
Chr22:50625309 [GRCh38]
Chr22:51063737 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*1207T>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001144303] |
Chr22:50623938 [GRCh38]
Chr22:51062366 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.558C>T (p.Asn186=) |
single nucleotide variant |
ARSA-related condition [RCV003940682]|Metachromatic leukodystrophy [RCV000891071]|not provided [RCV001729737] |
Chr22:50626960 [GRCh38]
Chr22:51065388 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 |
copy number gain |
not provided [RCV002468433] |
Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.178C>T (p.Arg60Trp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003388025]|not provided [RCV001557720] |
Chr22:50627602 [GRCh38]
Chr22:51066030 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NC_000022.11:g.50628197_50628209del |
deletion |
not provided [RCV001641030] |
Chr22:50628193..50628205 [GRCh38]
Chr22:51066621..51066633 [GRCh37]
Chr22:22q13.33 |
benign |
| GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 |
copy number loss |
not provided [RCV002472654] |
Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 |
copy number loss |
not provided [RCV002473520] |
Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.619G>A (p.Ala207Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003106708] |
Chr22:50626899 [GRCh38]
Chr22:51065327 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.189C>T (p.Asp63=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003106748] |
Chr22:50627591 [GRCh38]
Chr22:51066019 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 |
copy number loss |
not provided [RCV002473583] |
Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.50628190GCCGGGGGCGGG[2] |
microsatellite |
not provided [RCV001608174] |
Chr22:50628182..50628193 [GRCh38]
Chr22:51066610..51066621 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.*210A>G |
single nucleotide variant |
not provided [RCV001638972] |
Chr22:50624935 [GRCh38]
Chr22:51063363 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.854+1G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001192373]|Metachromatic leukodystrophy, severe [RCV002221160] |
Chr22:50626590 [GRCh38]
Chr22:51065018 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001237276] |
Chr22:50626228 [GRCh38]
Chr22:51064656 [GRCh37]
Chr22:22q13.33 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.*2134C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001144186] |
Chr22:50623011 [GRCh38]
Chr22:51061439 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*380G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001144423] |
Chr22:50624765 [GRCh38]
Chr22:51063193 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*165G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001144424] |
Chr22:50624980 [GRCh38]
Chr22:51063408 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 |
copy number gain |
not provided [RCV001007502] |
Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*2368A>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001144184] |
Chr22:50622777 [GRCh38]
Chr22:51061205 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*527A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001150507] |
Chr22:50624618 [GRCh38]
Chr22:51063046 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.778G>T (p.Val260Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001150626] |
Chr22:50626667 [GRCh38]
Chr22:51065095 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.335T>A (p.Val112Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001172248] |
Chr22:50627296 [GRCh38]
Chr22:51065724 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.371G>A (p.Gly124Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001172249] |
Chr22:50627260 [GRCh38]
Chr22:51065688 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.827C>A (p.Thr276Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001172252] |
Chr22:50626618 [GRCh38]
Chr22:51065046 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.931G>C (p.Gly311Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001172253] |
Chr22:50626202 [GRCh38]
Chr22:51064630 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.442G>A (p.Gly148Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001062955] |
Chr22:50627189 [GRCh38]
Chr22:51065617 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.685-1G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001172250] |
Chr22:50626761 [GRCh38]
Chr22:51065189 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1108-44G>A |
single nucleotide variant |
not provided [RCV001614286] |
Chr22:50625725 [GRCh38]
Chr22:51064153 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.979+13G>T |
single nucleotide variant |
not provided [RCV001643905] |
Chr22:50626141 [GRCh38]
Chr22:51064569 [GRCh37]
Chr22:22q13.33 |
benign |
| NC_000022.11:g.50628185G>T |
single nucleotide variant |
not provided [RCV001696431] |
Chr22:50628185 [GRCh38]
Chr22:51066613 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.1210+48C>T |
single nucleotide variant |
not provided [RCV001537118] |
Chr22:50625531 [GRCh38]
Chr22:51063959 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.86T>C (p.Phe29Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001559154] |
Chr22:50627694 [GRCh38]
Chr22:51066122 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.979+38A>G |
single nucleotide variant |
not provided [RCV001648725] |
Chr22:50626116 [GRCh38]
Chr22:51064544 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001149122] |
Chr22:50625231 [GRCh38]
Chr22:51063659 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1210+13C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001149124] |
Chr22:50625566 [GRCh38]
Chr22:51063994 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.582dup (p.Trp195fs) |
duplication |
Metachromatic leukodystrophy [RCV001250456] |
Chr22:50626935..50626936 [GRCh38]
Chr22:51065363..51065364 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1408_1419del (p.Ala470_Thr473del) |
deletion |
Metachromatic leukodystrophy [RCV001219928] |
Chr22:50625256..50625267 [GRCh38]
Chr22:51063684..51063695 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*389A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001150511] |
Chr22:50624756 [GRCh38]
Chr22:51063184 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.855-1G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001042683] |
Chr22:50626279 [GRCh38]
Chr22:51064707 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.728G>A (p.Arg243His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001150627] |
Chr22:50626717 [GRCh38]
Chr22:51065145 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.725A>G (p.Glu242Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001888978] |
Chr22:50626720 [GRCh38]
Chr22:51065148 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*1073G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146196] |
Chr22:50624072 [GRCh38]
Chr22:51062500 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NC_000022.10:g.(?_50964189)_(51066217_?)del |
deletion |
not provided [RCV001031919] |
Chr22:50964189..51066217 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*2283A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001144185] |
Chr22:50622862 [GRCh38]
Chr22:51061290 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1522C>T (p.His508Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001247080] |
Chr22:50625153 [GRCh38]
Chr22:51063581 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.13G>A (p.Ala5Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001232945] |
Chr22:50627767 [GRCh38]
Chr22:51066195 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.200del (p.Pro67fs) |
deletion |
Metachromatic leukodystrophy [RCV001208287] |
Chr22:50627580 [GRCh38]
Chr22:51066008 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1200C>T (p.Phe400=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001250462] |
Chr22:50625589 [GRCh38]
Chr22:51064017 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1378C>T (p.Gln460Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001250463] |
Chr22:50625297 [GRCh38]
Chr22:51063725 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*1049T>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001146197] |
Chr22:50624096 [GRCh38]
Chr22:51062524 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 |
copy number gain |
not provided [RCV001007507] |
Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*479C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001150508] |
Chr22:50624666 [GRCh38]
Chr22:51063094 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*466C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001150509] |
Chr22:50624679 [GRCh38]
Chr22:51063107 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.*413T>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001150510] |
Chr22:50624732 [GRCh38]
Chr22:51063160 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1269del (p.Ala424fs) |
deletion |
Metachromatic leukodystrophy [RCV001212980] |
Chr22:50625406 [GRCh38]
Chr22:51063834 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.413C>A (p.Pro138His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001248156] |
Chr22:50627218 [GRCh38]
Chr22:51065646 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.-223G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001149234] |
Chr22:50628002 [GRCh38]
Chr22:51066430 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.433C>T (p.Arg145Ter) |
single nucleotide variant |
ARSA-related condition [RCV003898047]|Metachromatic leukodystrophy [RCV001042235] |
Chr22:50627198 [GRCh38]
Chr22:51065626 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.*1157G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001144305] |
Chr22:50623988 [GRCh38]
Chr22:51062416 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NC_000022.11:g.48500344_50780581del |
deletion |
Phelan-McDermid syndrome [RCV001254361] |
Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33 |
pathogenic |
| NC_000022.11:g.48500337_50739785del |
deletion |
Phelan-McDermid syndrome [RCV001254365] |
Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33 |
pathogenic |
| NC_000022.11:g.49181210_50759297del |
deletion |
Phelan-McDermid syndrome [RCV001254368] |
Chr22:49181210..50759297 [GRCh38]
Chr22:22q13.33 |
pathogenic |
| NC_000022.11:g.44245760_50806121del |
deletion |
Phelan-McDermid syndrome [RCV001254369] |
Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.45708330_50737364del |
deletion |
Phelan-McDermid syndrome [RCV001254359] |
Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.47705262_50739836del |
deletion |
Phelan-McDermid syndrome [RCV001254360] |
Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.46269281_50740560del |
deletion |
Phelan-McDermid syndrome [RCV001254358] |
Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.43802117_50806121del |
deletion |
Phelan-McDermid syndrome [RCV001254364] |
Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.46489644_50806138del |
deletion |
Phelan-McDermid syndrome [RCV001254363] |
Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.43032129_50739836del |
deletion |
Phelan-McDermid syndrome [RCV001254356] |
Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33 |
pathogenic |
| NC_000022.11:g.47823120_50759410del |
deletion |
Phelan-McDermid syndrome [RCV001254355] |
Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.44702479_50806138del |
deletion |
Phelan-McDermid syndrome [RCV001254370] |
Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.47513236_50806138del |
deletion |
Phelan-McDermid syndrome [RCV001254357] |
Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.47447433_50806138del |
deletion |
Phelan-McDermid syndrome [RCV001254362] |
Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.45819932_50737806del |
deletion |
Phelan-McDermid syndrome [RCV001254366] |
Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NC_000022.11:g.46467175_50759338del |
deletion |
Phelan-McDermid syndrome [RCV001254367] |
Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1 |
copy number loss |
not provided [RCV001258791] |
Chr22:50791825..51181078 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50990475-51165799)x3 |
copy number gain |
not provided [RCV001258793] |
Chr22:50990475..51165799 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.33(chr22:49602454-51183869) |
copy number loss |
Phelan-McDermid syndrome [RCV002280637] |
Chr22:49602454..51183869 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| Single allele |
duplication |
Chromosome 22q13 duplication syndrome [RCV002280361] |
Chr22:49883237..50740457 [GRCh38]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.874_883del (p.Ser292fs) |
deletion |
Metachromatic leukodystrophy [RCV001255703] |
Chr22:50626250..50626259 [GRCh38]
Chr22:51064678..51064687 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 |
copy number gain |
See cases [RCV001263056] |
Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.40G>A (p.Ala14Thr) |
single nucleotide variant |
ARSA-related condition [RCV003928802]|Metachromatic leukodystrophy [RCV001441692] |
Chr22:50627740 [GRCh38]
Chr22:51066168 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.413C>G (p.Pro138Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607419]|not provided [RCV001268142] |
Chr22:50627218 [GRCh38]
Chr22:51065646 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.378G>A (p.Trp126Ter) |
single nucleotide variant |
not provided [RCV001268355] |
Chr22:50627253 [GRCh38]
Chr22:51065681 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 |
copy number loss |
not provided [RCV001537924] |
Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.788T>C (p.Leu263Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV001266448] |
Chr22:50626657 [GRCh38]
Chr22:51065085 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1227_1228del (p.Thr410fs) |
deletion |
Metachromatic leukodystrophy [RCV001280565] |
Chr22:50625447..50625448 [GRCh38]
Chr22:51063875..51063876 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.473G>C (p.Cys158Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001327795] |
Chr22:50627045 [GRCh38]
Chr22:51065473 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1523A>G (p.His508Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001329925] |
Chr22:50625152 [GRCh38]
Chr22:51063580 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.979+8C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001329926] |
Chr22:50626146 [GRCh38]
Chr22:51064574 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.607T>C (p.Tyr203His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001290420] |
Chr22:50626911 [GRCh38]
Chr22:51065339 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1107+1G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001382884] |
Chr22:50625935 [GRCh38]
Chr22:51064363 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.225-9G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001422166] |
Chr22:50627415 [GRCh38]
Chr22:51065843 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.393G>A (p.Gly131=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001433522] |
Chr22:50627238 [GRCh38]
Chr22:51065666 [GRCh37]
Chr22:22q13.33 |
likely benign |
| Single allele |
deletion |
Intellectual disability [RCV001293376] |
Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.684+7G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001279640] |
Chr22:50626827 [GRCh38]
Chr22:51065255 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.864C>G (p.Thr288=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001396822] |
Chr22:50626269 [GRCh38]
Chr22:51064697 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1480G>A (p.Gly494Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001296904] |
Chr22:50625195 [GRCh38]
Chr22:51063623 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.465+3A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001321529] |
Chr22:50627163 [GRCh38]
Chr22:51065591 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.385G>A (p.Gly129Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001345265] |
Chr22:50627246 [GRCh38]
Chr22:51065674 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.621C>T (p.Ala207=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001414002] |
Chr22:50626897 [GRCh38]
Chr22:51065325 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1378C>G (p.Gln460Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001279638] |
Chr22:50625297 [GRCh38]
Chr22:51063725 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.901C>T (p.Arg301Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002547576]|Metachromatic leukodystrophy [RCV001353058] |
Chr22:50626232 [GRCh38]
Chr22:51064660 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.581C>A (p.Pro194His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001290419] |
Chr22:50626937 [GRCh38]
Chr22:51065365 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1108-32C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001527485]|not provided [RCV001597294] |
Chr22:50625713 [GRCh38]
Chr22:51064141 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.27C>T (p.Leu9=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001490146] |
Chr22:50627753 [GRCh38]
Chr22:51066181 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+9C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001490360] |
Chr22:50627157 [GRCh38]
Chr22:51065585 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.891C>T (p.Ser297=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001498448] |
Chr22:50626242 [GRCh38]
Chr22:51064670 [GRCh37]
Chr22:22q13.33 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000487.6(ARSA):c.980-7C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001478383] |
Chr22:50626070 [GRCh38]
Chr22:51064498 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.336C>T (p.Val112=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001417218] |
Chr22:50627295 [GRCh38]
Chr22:51065723 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1446C>A (p.Gly482=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001490849] |
Chr22:50625229 [GRCh38]
Chr22:51063657 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.561G>A (p.Leu187=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001458871] |
Chr22:50626957 [GRCh38]
Chr22:51065385 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1353C>A (p.Thr451=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001484936] |
Chr22:50625322 [GRCh38]
Chr22:51063750 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1410A>T (p.Ala470=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001405595] |
Chr22:50625265 [GRCh38]
Chr22:51063693 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.657C>T (p.Arg219=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001483640] |
Chr22:50626861 [GRCh38]
Chr22:51065289 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1211-4C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001426076] |
Chr22:50625468 [GRCh38]
Chr22:51063896 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.240C>T (p.Thr80=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001472091] |
Chr22:50627391 [GRCh38]
Chr22:51065819 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.99C>T (p.Leu33=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001491721] |
Chr22:50627681 [GRCh38]
Chr22:51066109 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.417C>T (p.Pro139=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001503756] |
Chr22:50627214 [GRCh38]
Chr22:51065642 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1419C>G (p.Thr473=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001485887] |
Chr22:50625256 [GRCh38]
Chr22:51063684 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.12G>A (p.Gly4=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001461059] |
Chr22:50627768 [GRCh38]
Chr22:51066196 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.701A>G (p.Gln234Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001379881] |
Chr22:50626744 [GRCh38]
Chr22:51065172 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.750G>A (p.Gly250=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001469160] |
Chr22:50626695 [GRCh38]
Chr22:51065123 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1107+8C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001492090] |
Chr22:50625928 [GRCh38]
Chr22:51064356 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.66G>C (p.Pro22=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001478719] |
Chr22:50627714 [GRCh38]
Chr22:51066142 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1344C>T (p.Ala448=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001426074] |
Chr22:50625331 [GRCh38]
Chr22:51063759 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.49C>T (p.Leu17=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001445986] |
Chr22:50627731 [GRCh38]
Chr22:51066159 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.685-2A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001380268]|not provided [RCV003324831] |
Chr22:50626762 [GRCh38]
Chr22:51065190 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.306G>T (p.Leu102=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001407024] |
Chr22:50627325 [GRCh38]
Chr22:51065753 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001581180]|not provided [RCV001528504] |
Chr22:50627338 [GRCh38]
Chr22:51065766 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.708T>C (p.Ser236=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001402218] |
Chr22:50626737 [GRCh38]
Chr22:51065165 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.495G>T (p.Pro165=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001409729]|not specified [RCV002265994] |
Chr22:50627023 [GRCh38]
Chr22:51065451 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.588G>T (p.Leu196=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001448992] |
Chr22:50626930 [GRCh38]
Chr22:51065358 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.814C>T (p.Leu272=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001428131] |
Chr22:50626631 [GRCh38]
Chr22:51065059 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.489C>T (p.Cys163=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001407307] |
Chr22:50627029 [GRCh38]
Chr22:51065457 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.66G>A (p.Pro22=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001444183] |
Chr22:50627714 [GRCh38]
Chr22:51066142 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.804G>A (p.Gly268=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001407614] |
Chr22:50626641 [GRCh38]
Chr22:51065069 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.924C>T (p.Tyr308=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001405319] |
Chr22:50626209 [GRCh38]
Chr22:51064637 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.513C>T (p.Asp171=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001425367] |
Chr22:50627005 [GRCh38]
Chr22:51065433 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1287G>A (p.Leu429=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001447205] |
Chr22:50625388 [GRCh38]
Chr22:51063816 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.492C>T (p.Phe164=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001418717] |
Chr22:50627026 [GRCh38]
Chr22:51065454 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.705C>T (p.Phe235=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001427051] |
Chr22:50626740 [GRCh38]
Chr22:51065168 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.678C>T (p.Ala226=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001447310] |
Chr22:50626840 [GRCh38]
Chr22:51065268 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.160C>G (p.Leu54Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001377180] |
Chr22:50627620 [GRCh38]
Chr22:51066048 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.927G>A (p.Glu309=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001424063] |
Chr22:50626206 [GRCh38]
Chr22:51064634 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.54C>T (p.Ala18=) |
single nucleotide variant |
ARSA-related condition [RCV003908598]|Metachromatic leukodystrophy [RCV001411028] |
Chr22:50627726 [GRCh38]
Chr22:51066154 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.414C>T (p.Pro138=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001411179] |
Chr22:50627217 [GRCh38]
Chr22:51065645 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NC_000022.10:g.(?_50297466)_(51066227_?)del |
deletion |
ALG12-congenital disorder of glycosylation [RCV001384242] |
Chr22:50297466..51066227 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.30C>T (p.Leu10=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001438104] |
Chr22:50627750 [GRCh38]
Chr22:51066178 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1446C>G (p.Gly482=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001440680] |
Chr22:50625229 [GRCh38]
Chr22:51063657 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.858T>C (p.Pro286=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001406679] |
Chr22:50626275 [GRCh38]
Chr22:51064703 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.717C>T (p.Ser239=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001443279] |
Chr22:50626728 [GRCh38]
Chr22:51065156 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.210G>A (p.Leu70=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001435653] |
Chr22:50627570 [GRCh38]
Chr22:51065998 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1108-77C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001527486] |
Chr22:50625758 [GRCh38]
Chr22:51064186 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.684+33C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001527488]|not provided [RCV001615227] |
Chr22:50626801 [GRCh38]
Chr22:51065229 [GRCh37]
Chr22:22q13.33 |
benign|likely benign |
| NM_000487.6(ARSA):c.854+104C>T |
single nucleotide variant |
not provided [RCV001686041] |
Chr22:50626487 [GRCh38]
Chr22:51064915 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.799A>G (p.Ile267Val) |
single nucleotide variant |
not provided [RCV001508954] |
Chr22:50626646 [GRCh38]
Chr22:51065074 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1125C>T (p.Leu375=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001491035] |
Chr22:50625664 [GRCh38]
Chr22:51064092 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1041G>A (p.Gly347=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001496016] |
Chr22:50626002 [GRCh38]
Chr22:51064430 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1407C>T (p.Asp469=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001502846] |
Chr22:50625268 [GRCh38]
Chr22:51063696 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1374G>A (p.Leu458=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001476076] |
Chr22:50625301 [GRCh38]
Chr22:51063729 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NC_000022.11:g.50628209del |
deletion |
not provided [RCV001615735] |
Chr22:50628205 [GRCh38]
Chr22:51066633 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.855-112A>G |
single nucleotide variant |
not provided [RCV001716176] |
Chr22:50626390 [GRCh38]
Chr22:51064818 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.979+9G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001503662] |
Chr22:50626145 [GRCh38]
Chr22:51064573 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.637G>A (p.Asp213Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001827543]|not provided [RCV001592543] |
Chr22:50626881 [GRCh38]
Chr22:51065309 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.741G>A (p.Gly247=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001456089] |
Chr22:50626704 [GRCh38]
Chr22:51065132 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.294C>G (p.Ser98=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001487767] |
Chr22:50627337 [GRCh38]
Chr22:51065765 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.417C>G (p.Pro139=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001480596] |
Chr22:50627214 [GRCh38]
Chr22:51065642 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.300G>T (p.Gly100=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001460606] |
Chr22:50627331 [GRCh38]
Chr22:51065759 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.573G>A (p.Ala191=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001488511] |
Chr22:50626945 [GRCh38]
Chr22:51065373 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1211-8del |
deletion |
Metachromatic leukodystrophy [RCV001513905] |
Chr22:50625472 [GRCh38]
Chr22:51063900 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.723A>G (p.Ala241=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001463829] |
Chr22:50626722 [GRCh38]
Chr22:51065150 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NC_000022.10:g.(?_51064344)_(51066227_?)del |
deletion |
Metachromatic leukodystrophy [RCV001385083] |
Chr22:51064344..51066227 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NC_000022.10:g.(?_51062002)_51064623del |
deletion |
Metachromatic leukodystrophy [RCV001385084] |
|
pathogenic |
| NM_000487.6(ARSA):c.429C>T (p.Phe143=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001426780] |
Chr22:50627202 [GRCh38]
Chr22:51065630 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.318G>A (p.Glu106=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001428456] |
Chr22:50627313 [GRCh38]
Chr22:51065741 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NC_000022.10:g.(?_51063563)_(51066217_?)del |
deletion |
Metachromatic leukodystrophy [RCV001385082] |
Chr22:51063563..51066217 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1137G>A (p.Pro379=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001424879]|not provided [RCV002264310] |
Chr22:50625652 [GRCh38]
Chr22:51064080 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.105T>C (p.Tyr35=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001450810] |
Chr22:50627675 [GRCh38]
Chr22:51066103 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1422C>T (p.Phe474=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001481499] |
Chr22:50625253 [GRCh38]
Chr22:51063681 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.738C>T (p.Arg246=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001482005] |
Chr22:50626707 [GRCh38]
Chr22:51065135 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.324C>T (p.Thr108=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001469006] |
Chr22:50627307 [GRCh38]
Chr22:51065735 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.603C>A (p.Ala201=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001439778] |
Chr22:50626915 [GRCh38]
Chr22:51065343 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1024C>T (p.Leu342=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001460529] |
Chr22:50626019 [GRCh38]
Chr22:51064447 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1197C>T (p.His399=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001482966] |
Chr22:50625592 [GRCh38]
Chr22:51064020 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.466-8C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001497135] |
Chr22:50627060 [GRCh38]
Chr22:51065488 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.537C>T (p.Val179=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001506850] |
Chr22:50626981 [GRCh38]
Chr22:51065409 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.639C>T (p.Asp213=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001474320] |
Chr22:50626879 [GRCh38]
Chr22:51065307 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.57T>C (p.Val19=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001478741] |
Chr22:50627723 [GRCh38]
Chr22:51066151 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.291C>T (p.Ser97=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001480205] |
Chr22:50627340 [GRCh38]
Chr22:51065768 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.855-4C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001502027] |
Chr22:50626282 [GRCh38]
Chr22:51064710 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1284G>A (p.Pro428=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001457729] |
Chr22:50625391 [GRCh38]
Chr22:51063819 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.571G>A (p.Ala191Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002001569] |
Chr22:50626947 [GRCh38]
Chr22:51065375 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.33G>T (p.Leu11=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001432026] |
Chr22:50627747 [GRCh38]
Chr22:51066175 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.466-7G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001465092] |
Chr22:50627059 [GRCh38]
Chr22:51065487 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.849C>T (p.Asp283=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001466005] |
Chr22:50626596 [GRCh38]
Chr22:51065024 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1359G>A (p.Glu453=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001443210] |
Chr22:50625316 [GRCh38]
Chr22:51063744 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.409C>T (p.Leu137=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001485002] |
Chr22:50627222 [GRCh38]
Chr22:51065650 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.699T>C (p.Pro233=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001461866] |
Chr22:50626746 [GRCh38]
Chr22:51065174 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.417C>A (p.Pro139=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001415849] |
Chr22:50627214 [GRCh38]
Chr22:51065642 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1107+10G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001423591] |
Chr22:50625926 [GRCh38]
Chr22:51064354 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.338T>C (p.Leu113Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001376979]|not provided [RCV001574994] |
Chr22:50627293 [GRCh38]
Chr22:51065721 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1077C>T (p.Asp359=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001443807] |
Chr22:50625966 [GRCh38]
Chr22:51064394 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.829C>T (p.Leu277=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001497001] |
Chr22:50626616 [GRCh38]
Chr22:51065044 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1363C>T (p.Leu455=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001424023] |
Chr22:50625312 [GRCh38]
Chr22:51063740 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.466-8C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001437220] |
Chr22:50627060 [GRCh38]
Chr22:51065488 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.582del (p.Trp195fs) |
deletion |
Metachromatic leukodystrophy [RCV001420189] |
Chr22:50626936 [GRCh38]
Chr22:51065364 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1108-10C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001462327] |
Chr22:50625691 [GRCh38]
Chr22:51064119 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.365T>C (p.Met122Thr) |
single nucleotide variant |
not provided [RCV001727230] |
Chr22:50627266 [GRCh38]
Chr22:51065694 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1228dup (p.Thr410fs) |
duplication |
Metachromatic leukodystrophy [RCV002249272] |
Chr22:50625446..50625447 [GRCh38]
Chr22:51063874..51063875 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.208_209del (p.Leu70fs) |
microsatellite |
Metachromatic leukodystrophy [RCV001784817] |
Chr22:50627571..50627572 [GRCh38]
Chr22:51065999..51066000 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1187A>C (p.Tyr396Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001733823] |
Chr22:50625602 [GRCh38]
Chr22:51064030 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 |
copy number loss |
Phelan-McDermid syndrome [RCV001801178] |
Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.244C>T (p.Arg82Trp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001785963]|not provided [RCV003319478] |
Chr22:50627387 [GRCh38]
Chr22:51065815 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.842C>T (p.Thr281Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001785964] |
Chr22:50626603 [GRCh38]
Chr22:51065031 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.1486A>C (p.Thr496Pro) |
single nucleotide variant |
not provided [RCV001773016] |
Chr22:50625189 [GRCh38]
Chr22:51063617 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1238A>G (p.Asp413Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001775249] |
Chr22:50625437 [GRCh38]
Chr22:51063865 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1 |
copy number loss |
not provided [RCV001795845] |
Chr22:47554026..51186813 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50984491-51179298)x1 |
copy number loss |
not provided [RCV001795539] |
Chr22:50984491..51179298 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1348G>A (p.Ala450Thr) |
single nucleotide variant |
not provided [RCV001797218] |
Chr22:50625327 [GRCh38]
Chr22:51063755 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) |
indel |
Inborn genetic diseases [RCV002540348]|Metachromatic leukodystrophy [RCV001754573]|Neurodevelopmental disorder [RCV001779343]|not provided [RCV002275219] |
Chr22:50625611..50625612 [GRCh38]
Chr22:51064039..51064040 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.746T>G (p.Phe249Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001806304] |
Chr22:50626699 [GRCh38]
Chr22:51065127 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.465+5G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002003793] |
Chr22:50627161 [GRCh38]
Chr22:51065589 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.771T>A (p.Asp257Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002009219] |
Chr22:50626674 [GRCh38]
Chr22:51065102 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.724G>T (p.Glu242Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001929090] |
Chr22:50626721 [GRCh38]
Chr22:51065149 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) |
copy number loss |
not specified [RCV002052757] |
Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1276G>A (p.Glu426Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001824209] |
Chr22:50625399 [GRCh38]
Chr22:51063827 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.225-3C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001915077] |
Chr22:50627409 [GRCh38]
Chr22:51065837 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NC_000022.10:g.(?_50167881)_(51066207_?)dup |
duplication |
ALG12-congenital disorder of glycosylation [RCV001950618] |
Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1211-5C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001864464] |
Chr22:50625469 [GRCh38]
Chr22:51063897 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1063T>G (p.Leu355Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001889145] |
Chr22:50625980 [GRCh38]
Chr22:51064408 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1197C>G (p.His399Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002025304] |
Chr22:50625592 [GRCh38]
Chr22:51064020 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.913G>A (p.Gly305Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001915264] |
Chr22:50626220 [GRCh38]
Chr22:51064648 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.878G>A (p.Arg293Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001892816] |
Chr22:50626255 [GRCh38]
Chr22:51064683 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1 |
copy number loss |
not provided [RCV001832912] |
Chr22:47567951..51183840 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.349G>A (p.Gly117Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002003786] |
Chr22:50627282 [GRCh38]
Chr22:51065710 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.278T>G (p.Val93Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001984321] |
Chr22:50627353 [GRCh38]
Chr22:51065781 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1321T>G (p.Tyr441Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001910806] |
Chr22:50625354 [GRCh38]
Chr22:51063782 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.605G>A (p.Arg202His) |
single nucleotide variant |
Inborn genetic diseases [RCV003167333]|Metachromatic leukodystrophy [RCV001967480]|not provided [RCV002225950] |
Chr22:50626913 [GRCh38]
Chr22:51065341 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1445G>A (p.Gly482Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001912519] |
Chr22:50625230 [GRCh38]
Chr22:51063658 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.492C>G (p.Phe164Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002560605]|Metachromatic leukodystrophy [RCV001948328] |
Chr22:50627026 [GRCh38]
Chr22:51065454 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.601G>T (p.Ala201Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001927136] |
Chr22:50626917 [GRCh38]
Chr22:51065345 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.731C>A (p.Ser244Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001895276] |
Chr22:50626714 [GRCh38]
Chr22:51065142 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.154G>A (p.Asp52Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002002042] |
Chr22:50627626 [GRCh38]
Chr22:51066054 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1298T>G (p.Leu433Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002006832] |
Chr22:50625377 [GRCh38]
Chr22:51063805 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.989A>G (p.His330Arg) |
single nucleotide variant |
not specified [RCV001844505] |
Chr22:50626054 [GRCh38]
Chr22:51064482 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.33(chr22:49729747-51197838) |
copy number loss |
not specified [RCV002052764] |
Chr22:49729747..51197838 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.802G>A (p.Gly268Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001914136] |
Chr22:50626643 [GRCh38]
Chr22:51065071 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.761T>C (p.Met254Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001895179] |
Chr22:50626684 [GRCh38]
Chr22:51065112 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.28C>G (p.Leu10Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001967460] |
Chr22:50627752 [GRCh38]
Chr22:51066180 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.229G>T (p.Ala77Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001926309]|not provided [RCV002508328] |
Chr22:50627402 [GRCh38]
Chr22:51065830 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1415T>C (p.Val472Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001947596] |
Chr22:50625260 [GRCh38]
Chr22:51063688 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1108-12C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002043299] |
Chr22:50625693 [GRCh38]
Chr22:51064121 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1417A>T (p.Thr473Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002039929] |
Chr22:50625258 [GRCh38]
Chr22:51063686 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.724G>A (p.Glu242Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002023618] |
Chr22:50626721 [GRCh38]
Chr22:51065149 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1211-5C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002023604] |
Chr22:50625469 [GRCh38]
Chr22:51063897 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.892G>T (p.Gly298Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002004843] |
Chr22:50626241 [GRCh38]
Chr22:51064669 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.953C>T (p.Ala318Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001951629] |
Chr22:50626180 [GRCh38]
Chr22:51064608 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1489C>T (p.Pro497Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001973915] |
Chr22:50625186 [GRCh38]
Chr22:51063614 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1446C>T (p.Gly482=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002015721] |
Chr22:50625229 [GRCh38]
Chr22:51063657 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.662T>C (p.Phe221Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001888514] |
Chr22:50626856 [GRCh38]
Chr22:51065284 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.1256C>A (p.Ser419Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001878895] |
Chr22:50625419 [GRCh38]
Chr22:51063847 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.511G>T (p.Asp171Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001881993] |
Chr22:50627007 [GRCh38]
Chr22:51065435 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.104A>G (p.Tyr35Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001976848] |
Chr22:50627676 [GRCh38]
Chr22:51066104 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.882C>T (p.Gly294=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001976855] |
Chr22:50626251 [GRCh38]
Chr22:51064679 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.460G>A (p.Asp154Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001920743] |
Chr22:50627171 [GRCh38]
Chr22:51065599 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.221C>G (p.Ser74Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002038209] |
Chr22:50627559 [GRCh38]
Chr22:51065987 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NC_000022.10:g.(?_50502853)_(51066207_?)dup |
duplication |
not provided [RCV001944250] |
Chr22:50502853..51066207 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1095G>A (p.Leu365=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001942651] |
Chr22:50625948 [GRCh38]
Chr22:51064376 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.302_303delinsTT (p.Gly101Val) |
indel |
Metachromatic leukodystrophy [RCV001950830] |
Chr22:50627328..50627329 [GRCh38]
Chr22:51065756..51065757 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1439C>T (p.Ala480Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001941428] |
Chr22:50625236 [GRCh38]
Chr22:51063664 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1463A>G (p.Gln488Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001998429] |
Chr22:50625212 [GRCh38]
Chr22:51063640 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.347G>A (p.Arg116Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002012247] |
Chr22:50627284 [GRCh38]
Chr22:51065712 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1274_1275delinsCC (p.His425Pro) |
indel |
Metachromatic leukodystrophy [RCV002048692] |
Chr22:50625400..50625401 [GRCh38]
Chr22:51063828..51063829 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.620C>T (p.Ala207Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001921287] |
Chr22:50626898 [GRCh38]
Chr22:51065326 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.680C>G (p.Ser227Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002561554]|Metachromatic leukodystrophy [RCV001962680] |
Chr22:50626838 [GRCh38]
Chr22:51065266 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.617dup (p.Ala207fs) |
duplication |
Metachromatic leukodystrophy [RCV001999993] |
Chr22:50626900..50626901 [GRCh38]
Chr22:51065328..51065329 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.700C>G (p.Gln234Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001991704] |
Chr22:50626745 [GRCh38]
Chr22:51065173 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.1107+1G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001941577] |
Chr22:50625935 [GRCh38]
Chr22:51064363 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.134G>C (p.Ser45Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002017561] |
Chr22:50627646 [GRCh38]
Chr22:51066074 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1516G>T (p.Asp506Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002037509] |
Chr22:50625159 [GRCh38]
Chr22:51063587 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.562T>G (p.Ser188Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001962316] |
Chr22:50626956 [GRCh38]
Chr22:51065384 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.970A>G (p.Ile324Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001943816] |
Chr22:50626163 [GRCh38]
Chr22:51064591 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1468T>C (p.Cys490Arg) |
single nucleotide variant |
ARSA-related condition [RCV003395277]|Metachromatic leukodystrophy [RCV001916305] |
Chr22:50625207 [GRCh38]
Chr22:51063635 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.185_186del (p.Thr62fs) |
microsatellite |
Metachromatic leukodystrophy [RCV001951599] |
Chr22:50627594..50627595 [GRCh38]
Chr22:51066022..51066023 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1390C>T (p.Leu464Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001973872] |
Chr22:50625285 [GRCh38]
Chr22:51063713 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.131C>T (p.Pro44Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001901482] |
Chr22:50627649 [GRCh38]
Chr22:51066077 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1157G>A (p.Arg386His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001931073] |
Chr22:50625632 [GRCh38]
Chr22:51064060 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.826A>T (p.Thr276Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002029692] |
Chr22:50626619 [GRCh38]
Chr22:51065047 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.224+1G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002011795] |
Chr22:50627555 [GRCh38]
Chr22:51065983 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.272del (p.Pro91fs) |
deletion |
Metachromatic leukodystrophy [RCV001915688] |
Chr22:50627359 [GRCh38]
Chr22:51065787 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1385A>G (p.Gln462Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001897051] |
Chr22:50625290 [GRCh38]
Chr22:51063718 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1442G>A (p.Arg481Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001974490]|not provided [RCV002466717] |
Chr22:50625233 [GRCh38]
Chr22:51063661 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1282C>G (p.Pro428Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001995345] |
Chr22:50625393 [GRCh38]
Chr22:51063821 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.629T>A (p.Leu210His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001922205] |
Chr22:50626889 [GRCh38]
Chr22:51065317 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.448C>T (p.Pro150Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001917446] |
Chr22:50627183 [GRCh38]
Chr22:51065611 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.13del (p.Ala5fs) |
deletion |
Metachromatic leukodystrophy [RCV001951431] |
Chr22:50627767 [GRCh38]
Chr22:51066195 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.393_425del (p.Pro132_Gly142del) |
deletion |
Metachromatic leukodystrophy [RCV001995439] |
Chr22:50627206..50627238 [GRCh38]
Chr22:51065634..51065666 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NC_000022.10:g.(?_50906785)_(51066207_?)dup |
duplication |
Metachromatic leukodystrophy [RCV001900243] |
Chr22:50906785..51066207 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.727C>T (p.Arg243Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001899117] |
Chr22:50626718 [GRCh38]
Chr22:51065146 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1012C>G (p.Leu338Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001881201] |
Chr22:50626031 [GRCh38]
Chr22:51064459 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NC_000022.10:g.(?_51065065)_(51065595_?)del |
deletion |
Metachromatic leukodystrophy [RCV001939643] |
Chr22:51065065..51065595 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.56T>C (p.Val19Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001919225] |
Chr22:50627724 [GRCh38]
Chr22:51066152 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1277A>G (p.Glu426Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002035625] |
Chr22:50625398 [GRCh38]
Chr22:51063826 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.205T>C (p.Ser69Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002018334] |
Chr22:50627575 [GRCh38]
Chr22:51066003 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001916815] |
Chr22:50627361 [GRCh38]
Chr22:51065789 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001980760] |
Chr22:50626196 [GRCh38]
Chr22:51064624 [GRCh37]
Chr22:22q13.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000487.6(ARSA):c.1423G>A (p.Gly475Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001992683] |
Chr22:50625252 [GRCh38]
Chr22:51063680 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1450G>C (p.Asp484His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001934300] |
Chr22:50625225 [GRCh38]
Chr22:51063653 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.370G>T (p.Gly124Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002016655] |
Chr22:50627261 [GRCh38]
Chr22:51065689 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.392G>A (p.Gly131Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001905445] |
Chr22:50627239 [GRCh38]
Chr22:51065667 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1305G>A (p.Lys435=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002018480] |
Chr22:50625370 [GRCh38]
Chr22:51063798 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1293T>A (p.Tyr431Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001953645] |
Chr22:50625382 [GRCh38]
Chr22:51063810 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.967C>T (p.His323Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001952373] |
Chr22:50626166 [GRCh38]
Chr22:51064594 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.855-3C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001974598] |
Chr22:50626281 [GRCh38]
Chr22:51064709 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.173G>T (p.Gly58Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002018548] |
Chr22:50627607 [GRCh38]
Chr22:51066035 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.200C>T (p.Pro67Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001979782] |
Chr22:50627580 [GRCh38]
Chr22:51066008 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1136del (p.Pro379fs) |
deletion |
Metachromatic leukodystrophy [RCV001994511] |
Chr22:50625653 [GRCh38]
Chr22:51064081 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.195C>T (p.Tyr65=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001975160] |
Chr22:50627585 [GRCh38]
Chr22:51066013 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.892G>A (p.Gly298Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001961325] |
Chr22:50626241 [GRCh38]
Chr22:51064669 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.296G>T (p.Arg99Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001937318] |
Chr22:50627335 [GRCh38]
Chr22:51065763 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.242G>C (p.Gly81Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002033184] |
Chr22:50627389 [GRCh38]
Chr22:51065817 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.109G>C (p.Asp37His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002032009] |
Chr22:50627671 [GRCh38]
Chr22:51066099 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.157_164del (p.Gln53fs) |
deletion |
Metachromatic leukodystrophy [RCV001931749] |
Chr22:50627616..50627623 [GRCh38]
Chr22:51066044..51066051 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.581C>G (p.Pro194Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001920712] |
Chr22:50626937 [GRCh38]
Chr22:51065365 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.224+2T>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002031058] |
Chr22:50627554 [GRCh38]
Chr22:51065982 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.424G>A (p.Gly142Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001904542] |
Chr22:50627207 [GRCh38]
Chr22:51065635 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1106A>C (p.Lys369Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV001952306] |
Chr22:50625937 [GRCh38]
Chr22:51064365 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1211-2A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002051131] |
Chr22:50625466 [GRCh38]
Chr22:51063894 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.165G>A (p.Ala55=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002085465] |
Chr22:50627615 [GRCh38]
Chr22:51066043 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1107+10G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002108668] |
Chr22:50625926 [GRCh38]
Chr22:51064354 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.466-5C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002090221] |
Chr22:50627057 [GRCh38]
Chr22:51065485 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.42T>C (p.Ala14=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002073750] |
Chr22:50627738 [GRCh38]
Chr22:51066166 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.225-4G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002107531] |
Chr22:50627410 [GRCh38]
Chr22:51065838 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.186A>G (p.Thr62=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002092343] |
Chr22:50627594 [GRCh38]
Chr22:51066022 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.645G>A (p.Gln215=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002170037] |
Chr22:50626873 [GRCh38]
Chr22:51065301 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.168G>C (p.Ala56=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002072648] |
Chr22:50627612 [GRCh38]
Chr22:51066040 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.141C>G (p.Thr47=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002207887] |
Chr22:50627639 [GRCh38]
Chr22:51066067 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1134C>T (p.Tyr378=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002166123] |
Chr22:50625655 [GRCh38]
Chr22:51064083 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.156C>T (p.Asp52=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002206466] |
Chr22:50627624 [GRCh38]
Chr22:51066052 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.297G>A (p.Arg99=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002164878] |
Chr22:50627334 [GRCh38]
Chr22:51065762 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.300G>C (p.Gly100=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002185654] |
Chr22:50627331 [GRCh38]
Chr22:51065759 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.147C>T (p.Pro49=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002112256] |
Chr22:50627633 [GRCh38]
Chr22:51066061 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.234C>T (p.Leu78=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002086044] |
Chr22:50627397 [GRCh38]
Chr22:51065825 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1047A>C (p.Pro349=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002072463] |
Chr22:50625996 [GRCh38]
Chr22:51064424 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+8C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002147598] |
Chr22:50627158 [GRCh38]
Chr22:51065586 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1210+18A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002166127] |
Chr22:50625561 [GRCh38]
Chr22:51063989 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1011C>T (p.Asp337=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002208145] |
Chr22:50626032 [GRCh38]
Chr22:51064460 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1278G>A (p.Glu426=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002186603] |
Chr22:50625397 [GRCh38]
Chr22:51063825 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1107+8C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002097490] |
Chr22:50625928 [GRCh38]
Chr22:51064356 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+13C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002087691] |
Chr22:50627153 [GRCh38]
Chr22:51065581 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1329G>T (p.Leu443=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002168651] |
Chr22:50625346 [GRCh38]
Chr22:51063774 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1129_1136dup (p.Tyr381fs) |
duplication |
not provided [RCV002214264] |
Chr22:50625652..50625653 [GRCh38]
Chr22:51064080..51064081 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1443G>A (p.Arg481=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002153644] |
Chr22:50625232 [GRCh38]
Chr22:51063660 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.768G>A (p.Leu256=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002076613] |
Chr22:50626677 [GRCh38]
Chr22:51065105 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1210+8C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002080976] |
Chr22:50625571 [GRCh38]
Chr22:51063999 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.270C>T (p.Tyr90=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002095193] |
Chr22:50627361 [GRCh38]
Chr22:51065789 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1107+20A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002093720] |
Chr22:50625916 [GRCh38]
Chr22:51064344 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.999C>T (p.Ala333=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002195323] |
Chr22:50626044 [GRCh38]
Chr22:51064472 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+14G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002080499] |
Chr22:50627152 [GRCh38]
Chr22:51065580 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.237G>A (p.Leu79=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002150481] |
Chr22:50627394 [GRCh38]
Chr22:51065822 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.636C>G (p.Ala212=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002207062] |
Chr22:50626882 [GRCh38]
Chr22:51065310 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.387G>C (p.Gly129=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002212805] |
Chr22:50627244 [GRCh38]
Chr22:51065672 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1434G>A (p.Gln478=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002152246] |
Chr22:50625241 [GRCh38]
Chr22:51063669 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1035G>C (p.Leu345=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002152890] |
Chr22:50626008 [GRCh38]
Chr22:51064436 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1210+13del |
deletion |
Metachromatic leukodystrophy [RCV002115789] |
Chr22:50625566 [GRCh38]
Chr22:51063994 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.1290C>T (p.Leu430=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002185110] |
Chr22:50625385 [GRCh38]
Chr22:51063813 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.90C>T (p.Ala30=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002104582] |
Chr22:50627690 [GRCh38]
Chr22:51066118 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1086C>T (p.Pro362=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002195557] |
Chr22:50625957 [GRCh38]
Chr22:51064385 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1210+14G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002126485] |
Chr22:50625565 [GRCh38]
Chr22:51063993 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.310C>T (p.Leu104=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002109795] |
Chr22:50627321 [GRCh38]
Chr22:51065749 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1413T>C (p.Ala471=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002129561] |
Chr22:50625262 [GRCh38]
Chr22:51063690 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1389G>T (p.Leu463=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002172417] |
Chr22:50625286 [GRCh38]
Chr22:51063714 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1284G>C (p.Pro428=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002132701] |
Chr22:50625391 [GRCh38]
Chr22:51063819 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.729T>C (p.Arg243=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002215550] |
Chr22:50626716 [GRCh38]
Chr22:51065144 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.363A>G (p.Gly121=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002080216] |
Chr22:50627268 [GRCh38]
Chr22:51065696 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.685-5C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002211695] |
Chr22:50626765 [GRCh38]
Chr22:51065193 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1005C>T (p.Ser335=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002172578] |
Chr22:50626038 [GRCh38]
Chr22:51064466 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.999C>A (p.Ala333=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002173876] |
Chr22:50626044 [GRCh38]
Chr22:51064472 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1211-8C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002077421] |
Chr22:50625472 [GRCh38]
Chr22:51063900 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.756C>T (p.Ser252=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002171385] |
Chr22:50626689 [GRCh38]
Chr22:51065117 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1108-16_1108-15del |
deletion |
Metachromatic leukodystrophy [RCV002125808] |
Chr22:50625696..50625697 [GRCh38]
Chr22:51064124..51064125 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1211-7del |
deletion |
Metachromatic leukodystrophy [RCV002113267] |
Chr22:50625471 [GRCh38]
Chr22:51063899 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.21G>T (p.Arg7=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002194002] |
Chr22:50627759 [GRCh38]
Chr22:51066187 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1211-9C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002077522] |
Chr22:50625473 [GRCh38]
Chr22:51063901 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.252G>T (p.Pro84=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002158986] |
Chr22:50627379 [GRCh38]
Chr22:51065807 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.759G>A (p.Leu253=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002155564] |
Chr22:50626686 [GRCh38]
Chr22:51065114 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.909A>G (p.Gly303=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002117464] |
Chr22:50626224 [GRCh38]
Chr22:51064652 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.224+12del |
deletion |
Metachromatic leukodystrophy [RCV002118099] |
Chr22:50627544 [GRCh38]
Chr22:51065972 [GRCh37]
Chr22:22q13.33 |
benign |
| NM_000487.6(ARSA):c.1107+18del |
deletion |
Metachromatic leukodystrophy [RCV002219533] |
Chr22:50625918 [GRCh38]
Chr22:51064346 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1230C>T (p.Thr410=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002119020] |
Chr22:50625445 [GRCh38]
Chr22:51063873 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.543C>T (p.Ile181=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002178639] |
Chr22:50626975 [GRCh38]
Chr22:51065403 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1211-12C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002218229] |
Chr22:50625476 [GRCh38]
Chr22:51063904 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.963A>G (p.Pro321=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002218230] |
Chr22:50626170 [GRCh38]
Chr22:51064598 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.642C>T (p.Ala214=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002137186] |
Chr22:50626876 [GRCh38]
Chr22:51065304 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.980-8G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002139023] |
Chr22:50626071 [GRCh38]
Chr22:51064499 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.685-4C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002177186] |
Chr22:50626764 [GRCh38]
Chr22:51065192 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.687C>T (p.His229=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002083402] |
Chr22:50626758 [GRCh38]
Chr22:51065186 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1317G>A (p.Glu439=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002104238] |
Chr22:50625358 [GRCh38]
Chr22:51063786 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1500T>C (p.Ala500=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002100442] |
Chr22:50625175 [GRCh38]
Chr22:51063603 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1311T>C (p.Pro437=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002083786] |
Chr22:50625364 [GRCh38]
Chr22:51063792 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1512C>T (p.Cys504=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002141670] |
Chr22:50625163 [GRCh38]
Chr22:51063591 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.466-19C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002100809] |
Chr22:50627071 [GRCh38]
Chr22:51065499 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.980-16A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002082370] |
Chr22:50626079 [GRCh38]
Chr22:51064507 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.225-17T>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002141928] |
Chr22:50627423 [GRCh38]
Chr22:51065851 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.339G>T (p.Leu113=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002119221] |
Chr22:50627292 [GRCh38]
Chr22:51065720 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.855-16G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002097873] |
Chr22:50626294 [GRCh38]
Chr22:51064722 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.550T>C (p.Leu184=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002154160] |
Chr22:50626968 [GRCh38]
Chr22:51065396 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1107+10del |
deletion |
Metachromatic leukodystrophy [RCV002156499] |
Chr22:50625926 [GRCh38]
Chr22:51064354 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.861G>A (p.Glu287=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002084003] |
Chr22:50626272 [GRCh38]
Chr22:51064700 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.450G>A (p.Pro150=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002118384] |
Chr22:50627181 [GRCh38]
Chr22:51065609 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.66G>T (p.Pro22=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002176126] |
Chr22:50627714 [GRCh38]
Chr22:51066142 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1089G>C (p.Leu363=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002136359] |
Chr22:50625954 [GRCh38]
Chr22:51064382 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+8C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002120557] |
Chr22:50627158 [GRCh38]
Chr22:51065586 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1068T>C (p.Asp356=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002180393] |
Chr22:50625975 [GRCh38]
Chr22:51064403 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.224+16C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002200010] |
Chr22:50627540 [GRCh38]
Chr22:51065968 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.224+10G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002121674] |
Chr22:50627546 [GRCh38]
Chr22:51065974 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.330C>T (p.Ala110=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002156507] |
Chr22:50627301 [GRCh38]
Chr22:51065729 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.540C>A (p.Pro180=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002141690] |
Chr22:50626978 [GRCh38]
Chr22:51065406 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1146A>G (p.Pro382=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002204241] |
Chr22:50625643 [GRCh38]
Chr22:51064071 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1467C>A (p.Ile489=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002204665] |
Chr22:50625208 [GRCh38]
Chr22:51063636 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.854+9G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002138884] |
Chr22:50626582 [GRCh38]
Chr22:51065010 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1182A>C (p.Gly394=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002180434] |
Chr22:50625607 [GRCh38]
Chr22:51064035 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.735C>T (p.Gly245=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002083116] |
Chr22:50626710 [GRCh38]
Chr22:51065138 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1108-1G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002222915] |
Chr22:50625682 [GRCh38]
Chr22:51064110 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1429A>T (p.Ser477Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003110753] |
Chr22:50625246 [GRCh38]
Chr22:51063674 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NC_000022.10:g.(?_51063573)_(51064511_?)del |
deletion |
Metachromatic leukodystrophy [RCV003111289] |
Chr22:51063573..51064511 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NC_000022.10:g.(?_50167881)_(51066207_?)del |
deletion |
Metachromatic leukodystrophy [RCV003111291]|not provided [RCV003111290] |
Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33 |
pathogenic|no classifications from unflagged records |
| NM_000487.6(ARSA):c.198G>C (p.Val66=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003114160] |
Chr22:50627582 [GRCh38]
Chr22:51066010 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NC_000022.10:g.(?_50297486)_(51066207_?)del |
deletion |
not provided [RCV003116314] |
Chr22:50297486..51066207 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.454T>A (p.Ser152Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003117149] |
Chr22:50627177 [GRCh38]
Chr22:51065605 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1005C>A (p.Ser335=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003121402] |
Chr22:50626038 [GRCh38]
Chr22:51064466 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1528T>C (p.Ter510Arg) |
single nucleotide variant |
not specified [RCV003123391] |
Chr22:50625147 [GRCh38]
Chr22:51063575 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.248T>C (p.Leu83Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500692]|not provided [RCV002247162] |
Chr22:50627383 [GRCh38]
Chr22:51065811 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.218C>T (p.Pro73Leu) |
single nucleotide variant |
not specified [RCV003230914] |
Chr22:50627562 [GRCh38]
Chr22:51065990 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.891_895del (p.Gly298fs) |
deletion |
Metachromatic leukodystrophy [RCV002286598] |
Chr22:50626238..50626242 [GRCh38]
Chr22:51064666..51064670 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1214C>T (p.Ser405Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002284050] |
Chr22:50625461 [GRCh38]
Chr22:51063889 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.374A>C (p.Lys125Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003318425] |
Chr22:50627257 [GRCh38]
Chr22:51065685 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.350G>A (p.Gly117Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003095885]|not provided [RCV002261650] |
Chr22:50627281 [GRCh38]
Chr22:51065709 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs) |
duplication |
Metachromatic leukodystrophy [RCV002284046] |
Chr22:50625391..50625392 [GRCh38]
Chr22:51063819..51063820 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.685-3del |
deletion |
not provided [RCV002293072] |
Chr22:50626763 [GRCh38]
Chr22:51065191 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1307A>G (p.Asp436Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002289026] |
Chr22:50625368 [GRCh38]
Chr22:51063796 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1360G>A (p.Val454Met) |
single nucleotide variant |
Metachromatic leukodystrophy, juvenile type [RCV002471991] |
Chr22:50625315 [GRCh38]
Chr22:51063743 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 |
copy number loss |
not provided [RCV002472623] |
Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 |
copy number loss |
not provided [RCV002472642] |
Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.107G>A (p.Gly36Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003153017] |
Chr22:50627673 [GRCh38]
Chr22:51066101 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.818T>C (p.Leu273Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002303292] |
Chr22:50626627 [GRCh38]
Chr22:51065055 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.572_573insTGTCTCTTATA (p.Gln192fs) |
insertion |
Metachromatic leukodystrophy [RCV002306866] |
Chr22:50626945..50626946 [GRCh38]
Chr22:51065373..51065374 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.577C>T (p.Pro193Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002298975] |
Chr22:50626941 [GRCh38]
Chr22:51065369 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.609_610del (p.Met204fs) |
deletion |
Metachromatic leukodystrophy [RCV002309075] |
Chr22:50626908..50626909 [GRCh38]
Chr22:51065336..51065337 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.730_731del (p.Ser244fs) |
deletion |
Metachromatic leukodystrophy [RCV002309555] |
Chr22:50626714..50626715 [GRCh38]
Chr22:51065142..51065143 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1053del (p.Asn352fs) |
deletion |
Metachromatic leukodystrophy [RCV002838694] |
Chr22:50625990 [GRCh38]
Chr22:51064418 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.658C>A (p.Pro220Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002994252] |
Chr22:50626860 [GRCh38]
Chr22:51065288 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1211-3C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003074311] |
Chr22:50625467 [GRCh38]
Chr22:51063895 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.295C>T (p.Arg99Trp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002903751] |
Chr22:50627336 [GRCh38]
Chr22:51065764 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.518G>A (p.Gly173Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002816471] |
Chr22:50627000 [GRCh38]
Chr22:51065428 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.501C>T (p.Ala167=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002881337] |
Chr22:50627017 [GRCh38]
Chr22:51065445 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1327C>T (p.Leu443=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002771091] |
Chr22:50625348 [GRCh38]
Chr22:51063776 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.681T>C (p.Ser227=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002839471] |
Chr22:50626837 [GRCh38]
Chr22:51065265 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1483T>G (p.Cys495Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002859956] |
Chr22:50625192 [GRCh38]
Chr22:51063620 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.823G>C (p.Glu275Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002908822] |
Chr22:50626622 [GRCh38]
Chr22:51065050 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter) |
single nucleotide variant |
ARSA-related condition [RCV003418614]|Metachromatic leukodystrophy [RCV002819939] |
Chr22:50625276 [GRCh38]
Chr22:51063704 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.323C>T (p.Thr108Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003075658] |
Chr22:50627308 [GRCh38]
Chr22:51065736 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.980-21_980-20delinsCT |
indel |
Metachromatic leukodystrophy [RCV002994487] |
Chr22:50626083..50626084 [GRCh38]
Chr22:51064511..51064512 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.122A>G (p.Tyr41Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002756041] |
Chr22:50627658 [GRCh38]
Chr22:51066086 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1363C>A (p.Leu455Met) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002613799] |
Chr22:50625312 [GRCh38]
Chr22:51063740 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1398C>T (p.Ala466=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002755370] |
Chr22:50625277 [GRCh38]
Chr22:51063705 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.116G>A (p.Gly39Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003074893] |
Chr22:50627664 [GRCh38]
Chr22:51066092 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.572C>T (p.Ala191Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002687697] |
Chr22:50626946 [GRCh38]
Chr22:51065374 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.388G>A (p.Val130Met) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002996029] |
Chr22:50627243 [GRCh38]
Chr22:51065671 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.465+19C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002857866] |
Chr22:50627147 [GRCh38]
Chr22:51065575 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.970A>T (p.Ile324Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002776250] |
Chr22:50626163 [GRCh38]
Chr22:51064591 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1218C>G (p.Ala406=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002819240] |
Chr22:50625457 [GRCh38]
Chr22:51063885 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.225-15_225-14del |
microsatellite |
Metachromatic leukodystrophy [RCV002819264] |
Chr22:50627420..50627421 [GRCh38]
Chr22:51065848..51065849 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1149C>A (p.Asp383Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003076512] |
Chr22:50625640 [GRCh38]
Chr22:51064068 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.276C>A (p.Gly92=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002971274] |
Chr22:50627355 [GRCh38]
Chr22:51065783 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.484A>G (p.Thr162Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003016974] |
Chr22:50627034 [GRCh38]
Chr22:51065462 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1492del (p.Arg498fs) |
deletion |
Metachromatic leukodystrophy [RCV002974893] |
Chr22:50625183 [GRCh38]
Chr22:51063611 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.574C>T (p.Gln192Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002996828] |
Chr22:50626944 [GRCh38]
Chr22:51065372 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.646C>T (p.Arg216Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002947709]|Metachromatic leukodystrophy [RCV002947708] |
Chr22:50626872 [GRCh38]
Chr22:51065300 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.311del (p.Leu104fs) |
deletion |
Metachromatic leukodystrophy [RCV002705864] |
Chr22:50627320 [GRCh38]
Chr22:51065748 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1313G>A (p.Gly438Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002639319] |
Chr22:50625362 [GRCh38]
Chr22:51063790 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.568G>C (p.Glu190Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002637927] |
Chr22:50626950 [GRCh38]
Chr22:51065378 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.264C>T (p.Gly88=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003038417] |
Chr22:50627367 [GRCh38]
Chr22:51065795 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.176T>C (p.Leu59Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003038433] |
Chr22:50627604 [GRCh38]
Chr22:51066032 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.635C>G (p.Ala212Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002800296] |
Chr22:50626883 [GRCh38]
Chr22:51065311 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.169G>A (p.Gly57Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002914480] |
Chr22:50627611 [GRCh38]
Chr22:51066039 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.645_660dup (p.Phe221fs) |
duplication |
Metachromatic leukodystrophy [RCV003055704] |
Chr22:50626857..50626858 [GRCh38]
Chr22:51065285..51065286 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.837C>T (p.Ile279=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003036745] |
Chr22:50626608 [GRCh38]
Chr22:51065036 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.231C>G (p.Ala77=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003036715] |
Chr22:50627400 [GRCh38]
Chr22:51065828 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.466-19C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002638027] |
Chr22:50627071 [GRCh38]
Chr22:51065499 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.565G>A (p.Val189Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003274233]|Metachromatic leukodystrophy [RCV003100240]|not specified [RCV003388151] |
Chr22:50626953 [GRCh38]
Chr22:51065381 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.258G>T (p.Arg86=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002591345] |
Chr22:50627373 [GRCh38]
Chr22:51065801 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.981C>T (p.Gly327=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002886284] |
Chr22:50626062 [GRCh38]
Chr22:51064490 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.823G>A (p.Glu275Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002979566] |
Chr22:50626622 [GRCh38]
Chr22:51065050 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.301G>T (p.Gly101Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002620764] |
Chr22:50627330 [GRCh38]
Chr22:51065758 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.446T>C (p.Ile149Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002620940] |
Chr22:50627185 [GRCh38]
Chr22:51065613 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.485C>G (p.Thr162Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002909952] |
Chr22:50627033 [GRCh38]
Chr22:51065461 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.986C>G (p.Thr329Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002780356] |
Chr22:50626057 [GRCh38]
Chr22:51064485 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.465+17_465+18insT |
insertion |
Metachromatic leukodystrophy [RCV003078082] |
Chr22:50627148..50627149 [GRCh38]
Chr22:51065576..51065577 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.337C>T (p.Leu113=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002658676] |
Chr22:50627294 [GRCh38]
Chr22:51065722 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.455C>G (p.Ser152Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002705559] |
Chr22:50627176 [GRCh38]
Chr22:51065604 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.584G>A (p.Trp195Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002848202] |
Chr22:50626934 [GRCh38]
Chr22:51065362 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1299G>A (p.Leu433=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002706440] |
Chr22:50625376 [GRCh38]
Chr22:51063804 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1177A>G (p.Thr393Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002823652] |
Chr22:50625612 [GRCh38]
Chr22:51064040 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.979+18C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003081186] |
Chr22:50626136 [GRCh38]
Chr22:51064564 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.36C>T (p.Ala12=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002795821] |
Chr22:50627744 [GRCh38]
Chr22:51066172 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1278del (p.Glu426fs) |
deletion |
Metachromatic leukodystrophy [RCV002847519] |
Chr22:50625397 [GRCh38]
Chr22:51063825 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.926A>G (p.Glu309Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002659128] |
Chr22:50626207 [GRCh38]
Chr22:51064635 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.558C>A (p.Asn186Lys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003002281] |
Chr22:50626960 [GRCh38]
Chr22:51065388 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1056T>C (p.Asn352=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002706586] |
Chr22:50625987 [GRCh38]
Chr22:51064415 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1370C>T (p.Ala457Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002953037] |
Chr22:50625305 [GRCh38]
Chr22:51063733 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1330dup (p.Leu444fs) |
duplication |
Metachromatic leukodystrophy [RCV002909478] |
Chr22:50625344..50625345 [GRCh38]
Chr22:51063772..51063773 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.770A>T (p.Asp257Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003054290] |
Chr22:50626675 [GRCh38]
Chr22:51065103 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.196G>A (p.Val66Met) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002640149] |
Chr22:50627584 [GRCh38]
Chr22:51066012 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1436T>C (p.Val479Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002886226] |
Chr22:50625239 [GRCh38]
Chr22:51063667 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.466-4_482del |
deletion |
Metachromatic leukodystrophy [RCV003037475] |
Chr22:50627036..50627056 [GRCh38]
Chr22:51065464..51065484 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.25C>A (p.Leu9Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002659682] |
Chr22:50627755 [GRCh38]
Chr22:51066183 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.263del (p.Gly88fs) |
deletion |
Metachromatic leukodystrophy [RCV002785457] |
Chr22:50627368 [GRCh38]
Chr22:51065796 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.942G>A (p.Glu314=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003080671] |
Chr22:50626191 [GRCh38]
Chr22:51064619 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.454T>C (p.Ser152Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002713437] |
Chr22:50627177 [GRCh38]
Chr22:51065605 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.855-19A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002575700] |
Chr22:50626297 [GRCh38]
Chr22:51064725 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1171G>C (p.Val391Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002701227] |
Chr22:50625618 [GRCh38]
Chr22:51064046 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1108-16C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002624090] |
Chr22:50625697 [GRCh38]
Chr22:51064125 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1128_1129dup (p.Phe377fs) |
duplication |
Metachromatic leukodystrophy [RCV002875682] |
Chr22:50625659..50625660 [GRCh38]
Chr22:51064087..51064088 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1196A>G (p.His399Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002876808] |
Chr22:50625593 [GRCh38]
Chr22:51064021 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1030G>C (p.Ala344Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002917784] |
Chr22:50626013 [GRCh38]
Chr22:51064441 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.955_956insGCCTTGAT (p.Phe319fs) |
insertion |
Metachromatic leukodystrophy [RCV002853238] |
Chr22:50626177..50626178 [GRCh38]
Chr22:51064605..51064606 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1107+16C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002576075] |
Chr22:50625920 [GRCh38]
Chr22:51064348 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.535G>A (p.Val179Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002791134] |
Chr22:50626983 [GRCh38]
Chr22:51065411 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.300G>A (p.Gly100=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002852077] |
Chr22:50627331 [GRCh38]
Chr22:51065759 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.477G>A (p.Gln159=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003043611] |
Chr22:50627041 [GRCh38]
Chr22:51065469 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.968A>C (p.His323Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002874182] |
Chr22:50626165 [GRCh38]
Chr22:51064593 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.251C>G (p.Pro84Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002801671] |
Chr22:50627380 [GRCh38]
Chr22:51065808 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.422del (p.Gln141fs) |
deletion |
Metachromatic leukodystrophy [RCV003007549] |
Chr22:50627209 [GRCh38]
Chr22:51065637 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.110_111insACTGGGCTGCTATGGGCA (p.Asp37delinsGluLeuGlyCysTyrGlyHis) |
insertion |
Metachromatic leukodystrophy [RCV002957662] |
Chr22:50627669..50627670 [GRCh38]
Chr22:51066097..51066098 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.782G>A (p.Gly261Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002917478] |
Chr22:50626663 [GRCh38]
Chr22:51065091 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.789G>C (p.Leu263=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003083160] |
Chr22:50626656 [GRCh38]
Chr22:51065084 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.436T>C (p.Phe146Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003041420] |
Chr22:50627195 [GRCh38]
Chr22:51065623 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.595C>T (p.Leu199=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002802214] |
Chr22:50626923 [GRCh38]
Chr22:51065351 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.37C>T (p.Leu13=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002805628] |
Chr22:50627743 [GRCh38]
Chr22:51066171 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1341G>A (p.Val447=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002917293] |
Chr22:50625334 [GRCh38]
Chr22:51063762 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.339G>A (p.Leu113=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002667600] |
Chr22:50627292 [GRCh38]
Chr22:51065720 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1210+18A>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003056495] |
Chr22:50625561 [GRCh38]
Chr22:51063989 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.680C>T (p.Ser227Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002982621] |
Chr22:50626838 [GRCh38]
Chr22:51065266 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.225-12C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003058274] |
Chr22:50627418 [GRCh38]
Chr22:51065846 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1456G>A (p.Ala486Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002741051] |
Chr22:50625219 [GRCh38]
Chr22:51063647 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.780G>A (p.Val260=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002801676] |
Chr22:50626665 [GRCh38]
Chr22:51065093 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1206C>T (p.Thr402=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002790654] |
Chr22:50625583 [GRCh38]
Chr22:51064011 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1280C>T (p.Pro427Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002711602] |
Chr22:50625395 [GRCh38]
Chr22:51063823 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.586C>T (p.Leu196=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002741659] |
Chr22:50626932 [GRCh38]
Chr22:51065360 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.412C>A (p.Pro138Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003041421] |
Chr22:50627219 [GRCh38]
Chr22:51065647 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1297C>T (p.Leu433=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003057610] |
Chr22:50625378 [GRCh38]
Chr22:51063806 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+10A>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003005718] |
Chr22:50627156 [GRCh38]
Chr22:51065584 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.264C>G (p.Gly88=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002932867] |
Chr22:50627367 [GRCh38]
Chr22:51065795 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1252G>A (p.Ala418Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002644525] |
Chr22:50625423 [GRCh38]
Chr22:51063851 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1376A>G (p.Lys459Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002766756] |
Chr22:50625299 [GRCh38]
Chr22:51063727 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.130C>A (p.Pro44Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002829667] |
Chr22:50627650 [GRCh38]
Chr22:51066078 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.104A>T (p.Tyr35Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003043084] |
Chr22:50627676 [GRCh38]
Chr22:51066104 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1488C>G (p.Thr496=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003065868] |
Chr22:50625187 [GRCh38]
Chr22:51063615 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.855-20dup |
duplication |
Metachromatic leukodystrophy [RCV003091961] |
Chr22:50626297..50626298 [GRCh38]
Chr22:51064725..51064726 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1435G>A (p.Val479Met) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002651351] |
Chr22:50625240 [GRCh38]
Chr22:51063668 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.460G>C (p.Asp154His) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002627640] |
Chr22:50627171 [GRCh38]
Chr22:51065599 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.308C>G (p.Pro103Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002938739] |
Chr22:50627323 [GRCh38]
Chr22:51065751 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.693C>T (p.His231=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003031361] |
Chr22:50626752 [GRCh38]
Chr22:51065180 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1408G>A (p.Ala470Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003060327] |
Chr22:50625267 [GRCh38]
Chr22:51063695 [GRCh37]
Chr22:22q13.33 |
likely benign|uncertain significance |
| NM_000487.6(ARSA):c.1453C>T (p.Pro485Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003060434] |
Chr22:50625222 [GRCh38]
Chr22:51063650 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.531C>A (p.Gly177=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002961970] |
Chr22:50626987 [GRCh38]
Chr22:51065415 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.17C>T (p.Pro6Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002714787] |
Chr22:50627763 [GRCh38]
Chr22:51066191 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.427T>C (p.Phe143Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003061639] |
Chr22:50627204 [GRCh38]
Chr22:51065632 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.386G>A (p.Gly129Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003047254] |
Chr22:50627245 [GRCh38]
Chr22:51065673 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.684+15C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002857682] |
Chr22:50626819 [GRCh38]
Chr22:51065247 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1033C>T (p.Leu345=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002646674] |
Chr22:50626010 [GRCh38]
Chr22:51064438 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.870T>C (p.Arg290=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003060365] |
Chr22:50626263 [GRCh38]
Chr22:51064691 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003064665]|not specified [RCV003235764] |
Chr22:50625396 [GRCh38]
Chr22:51063824 [GRCh37]
Chr22:22q13.33 |
pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.570G>A (p.Glu190=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003047642] |
Chr22:50626948 [GRCh38]
Chr22:51065376 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.951G>A (p.Leu317=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003029273] |
Chr22:50626182 [GRCh38]
Chr22:51064610 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.698C>G (p.Pro233Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002631353] |
Chr22:50626747 [GRCh38]
Chr22:51065175 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.978C>T (p.Pro326=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003087033] |
Chr22:50626155 [GRCh38]
Chr22:51064583 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.245G>T (p.Arg82Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002716076] |
Chr22:50627386 [GRCh38]
Chr22:51065814 [GRCh37]
Chr22:22q13.33 |
pathogenic|likely pathogenic |
| NM_000487.6(ARSA):c.116dup (p.Cys40fs) |
duplication |
Metachromatic leukodystrophy [RCV002856891] |
Chr22:50627663..50627664 [GRCh38]
Chr22:51066091..51066092 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.685-6C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002628406] |
Chr22:50626766 [GRCh38]
Chr22:51065194 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.907G>A (p.Gly303Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003064666] |
Chr22:50626226 [GRCh38]
Chr22:51064654 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.854+14G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002650522] |
Chr22:50626577 [GRCh38]
Chr22:51065005 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1492C>T (p.Arg498Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002581888] |
Chr22:50625183 [GRCh38]
Chr22:51063611 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.252G>C (p.Pro84=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002832758] |
Chr22:50627379 [GRCh38]
Chr22:51065807 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.10G>A (p.Gly4Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002603756] |
Chr22:50627770 [GRCh38]
Chr22:51066198 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1294G>A (p.Asp432Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003066278] |
Chr22:50625381 [GRCh38]
Chr22:51063809 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.854+17G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003068432] |
Chr22:50626574 [GRCh38]
Chr22:51065002 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.684+9T>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002815058] |
Chr22:50626825 [GRCh38]
Chr22:51065253 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+17C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003093276] |
Chr22:50627149 [GRCh38]
Chr22:51065577 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.973G>A (p.Ala325Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003066572] |
Chr22:50626160 [GRCh38]
Chr22:51064588 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.38T>A (p.Leu13Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003050586] |
Chr22:50627742 [GRCh38]
Chr22:51066170 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.225-15T>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002605716] |
Chr22:50627421 [GRCh38]
Chr22:51065849 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1118A>C (p.Gln373Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002655981]|Metachromatic leukodystrophy [RCV003111646] |
Chr22:50625671 [GRCh38]
Chr22:51064099 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.394C>T (p.Pro132Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003051945] |
Chr22:50627237 [GRCh38]
Chr22:51065665 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1223G>C (p.Ser408Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003067265] |
Chr22:50625452 [GRCh38]
Chr22:51063880 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.498G>A (p.Pro166=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003093429] |
Chr22:50627020 [GRCh38]
Chr22:51065448 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.765G>C (p.Glu255Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003052681] |
Chr22:50626680 [GRCh38]
Chr22:51065108 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.1087C>T (p.Leu363=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002590068] |
Chr22:50625956 [GRCh38]
Chr22:51064384 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1107+16C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002612807] |
Chr22:50625920 [GRCh38]
Chr22:51064348 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1492C>A (p.Arg498Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002721566] |
Chr22:50625183 [GRCh38]
Chr22:51063611 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.465+12C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002610881] |
Chr22:50627154 [GRCh38]
Chr22:51065582 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.820G>A (p.Glu274Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003377891]|Metachromatic leukodystrophy [RCV002610918] |
Chr22:50626625 [GRCh38]
Chr22:51065053 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.800T>C (p.Ile267Thr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002611285] |
Chr22:50626645 [GRCh38]
Chr22:51065073 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.979+10C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003068626] |
Chr22:50626144 [GRCh38]
Chr22:51064572 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1052C>T (p.Pro351Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002606629] |
Chr22:50625991 [GRCh38]
Chr22:51064419 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.854G>A (p.Gly285Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV002590182] |
Chr22:50626591 [GRCh38]
Chr22:51065019 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1400A>C (p.Gln467Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003141542] |
Chr22:50625275 [GRCh38]
Chr22:51063703 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1059C>T (p.Val353=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003141543] |
Chr22:50625984 [GRCh38]
Chr22:51064412 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.937dup (p.Arg313fs) |
duplication |
Metachromatic leukodystrophy [RCV003227541] |
Chr22:50626195..50626196 [GRCh38]
Chr22:51064623..51064624 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.509G>A (p.Cys170Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003216790] |
Chr22:50627009 [GRCh38]
Chr22:51065437 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.869G>T (p.Arg290Leu) |
single nucleotide variant |
not specified [RCV003324373] |
Chr22:50626264 [GRCh38]
Chr22:51064692 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.854+82G>A |
single nucleotide variant |
not provided [RCV003322189] |
Chr22:50626509 [GRCh38]
Chr22:51064937 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1442G>C (p.Arg481Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003308521] |
Chr22:50625233 [GRCh38]
Chr22:51063661 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1198T>G (p.Phe400Val) |
single nucleotide variant |
not specified [RCV003324372] |
Chr22:50625591 [GRCh38]
Chr22:51064019 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1 |
copy number loss |
Chromosome 22q13 duplication syndrome [RCV003329540] |
Chr22:50014114..51244066 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1 |
copy number loss |
Phelan-McDermid syndrome [RCV003327722] |
Chr22:49757859..50740457 [GRCh38]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.731C>T (p.Ser244Leu) |
single nucleotide variant |
not specified [RCV003332059] |
Chr22:50626714 [GRCh38]
Chr22:51065142 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1205C>G (p.Thr402Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003375806] |
Chr22:50625584 [GRCh38]
Chr22:51064012 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 |
copy number loss |
not provided [RCV003457366] |
Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.225-13A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003874836] |
Chr22:50627419 [GRCh38]
Chr22:51065847 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.855-12C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003873311] |
Chr22:50626290 [GRCh38]
Chr22:51064718 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 |
copy number gain |
not provided [RCV003485247] |
Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3 |
copy number gain |
not provided [RCV003485250] |
Chr22:50661573..51166665 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 |
copy number loss |
not provided [RCV003483399] |
Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.466G>C (p.Gly156Arg) |
single nucleotide variant |
not specified [RCV003404900] |
Chr22:50627052 [GRCh38]
Chr22:51065480 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.661T>A (p.Phe221Ile) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003388803] |
Chr22:50626857 [GRCh38]
Chr22:51065285 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NC_000022.11:g.50628221_50628231del |
deletion |
not provided [RCV003443904] |
Chr22:50628212..50628222 [GRCh38]
Chr22:51066640..51066650 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.252G>A (p.Pro84=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003882541] |
Chr22:50627379 [GRCh38]
Chr22:51065807 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.979+20C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607155] |
Chr22:50626134 [GRCh38]
Chr22:51064562 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.177G>A (p.Leu59=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607174] |
Chr22:50627603 [GRCh38]
Chr22:51066031 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.224+13C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607146] |
Chr22:50627543 [GRCh38]
Chr22:51065971 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.980-17C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607161] |
Chr22:50626080 [GRCh38]
Chr22:51064508 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.676G>T (p.Ala226Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607621] |
Chr22:50626842 [GRCh38]
Chr22:51065270 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.224+20T>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607186] |
Chr22:50627536 [GRCh38]
Chr22:51065964 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1176G>A (p.Arg392=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607693] |
Chr22:50625613 [GRCh38]
Chr22:51064041 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.61del (p.Arg21fs) |
deletion |
Metachromatic leukodystrophy [RCV003607956] |
Chr22:50627719 [GRCh38]
Chr22:51066147 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.916A>G (p.Thr306Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607724] |
Chr22:50626217 [GRCh38]
Chr22:51064645 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.855-12C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607792] |
Chr22:50626290 [GRCh38]
Chr22:51064718 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1335G>T (p.Gly445=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608029] |
Chr22:50625340 [GRCh38]
Chr22:51063768 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1173G>A (p.Val391=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608086] |
Chr22:50625616 [GRCh38]
Chr22:51064044 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.390G>A (p.Val130=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608114] |
Chr22:50627241 [GRCh38]
Chr22:51065669 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.225-9G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607963] |
Chr22:50627415 [GRCh38]
Chr22:51065843 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1210+7C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607977] |
Chr22:50625572 [GRCh38]
Chr22:51064000 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+15G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608210] |
Chr22:50627151 [GRCh38]
Chr22:51065579 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.349_350dup (p.Tyr118fs) |
duplication |
Metachromatic leukodystrophy [RCV003608025] |
Chr22:50627280..50627281 [GRCh38]
Chr22:51065708..51065709 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1335G>C (p.Gly445=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607998] |
Chr22:50625340 [GRCh38]
Chr22:51063768 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.771T>G (p.Asp257Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608014] |
Chr22:50626674 [GRCh38]
Chr22:51065102 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.891C>A (p.Ser297=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608436] |
Chr22:50626242 [GRCh38]
Chr22:51064670 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1527C>A (p.Ala509=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608024] |
Chr22:50625148 [GRCh38]
Chr22:51063576 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.48C>T (p.Gly16=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608455] |
Chr22:50627732 [GRCh38]
Chr22:51066160 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.224+9G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608058] |
Chr22:50627547 [GRCh38]
Chr22:51065975 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.514G>T (p.Gly172Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607134] |
Chr22:50627004 [GRCh38]
Chr22:51065432 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.466-11G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608063] |
Chr22:50627063 [GRCh38]
Chr22:51065491 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.129_133del (p.His43fs) |
deletion |
Metachromatic leukodystrophy [RCV003608120] |
Chr22:50627647..50627651 [GRCh38]
Chr22:51066075..51066079 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.349G>C (p.Gly117Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608192] |
Chr22:50627282 [GRCh38]
Chr22:51065710 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.486C>T (p.Thr162=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608479] |
Chr22:50627032 [GRCh38]
Chr22:51065460 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.898T>C (p.Leu300=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607947] |
Chr22:50626235 [GRCh38]
Chr22:51064663 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.580C>T (p.Pro194Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607708] |
Chr22:50626938 [GRCh38]
Chr22:51065366 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.224+9G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607754] |
Chr22:50627547 [GRCh38]
Chr22:51065975 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.225-1G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608299] |
Chr22:50627407 [GRCh38]
Chr22:51065835 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1441C>A (p.Arg481=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608312] |
Chr22:50625234 [GRCh38]
Chr22:51063662 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1329G>A (p.Leu443=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607791] |
Chr22:50625346 [GRCh38]
Chr22:51063774 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.979+13G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608593] |
Chr22:50626141 [GRCh38]
Chr22:51064569 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.256C>G (p.Arg86Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608531] |
Chr22:50627375 [GRCh38]
Chr22:51065803 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1282C>T (p.Pro428Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608351] |
Chr22:50625393 [GRCh38]
Chr22:51063821 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1071C>T (p.Gly357=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608599] |
Chr22:50625972 [GRCh38]
Chr22:51064400 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.93C>G (p.Asp31Glu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608621] |
Chr22:50627687 [GRCh38]
Chr22:51066115 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1288C>T (p.Leu430Phe) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608382] |
Chr22:50625387 [GRCh38]
Chr22:51063815 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1158T>A (p.Arg386=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608387] |
Chr22:50625631 [GRCh38]
Chr22:51064059 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.813G>A (p.Gly271=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607924] |
Chr22:50626632 [GRCh38]
Chr22:51065060 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1174C>G (p.Arg392Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608418] |
Chr22:50625615 [GRCh38]
Chr22:51064043 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1044C>G (p.Ala348=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607898] |
Chr22:50625999 [GRCh38]
Chr22:51064427 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.908G>T (p.Gly303Val) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608337] |
Chr22:50626225 [GRCh38]
Chr22:51064653 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.195C>G (p.Tyr65Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607932] |
Chr22:50627585 [GRCh38]
Chr22:51066013 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.69C>G (p.Pro23=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608349] |
Chr22:50627711 [GRCh38]
Chr22:51066139 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.958T>G (p.Trp320Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608378] |
Chr22:50626175 [GRCh38]
Chr22:51064603 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1347G>A (p.Gly449=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607988] |
Chr22:50625328 [GRCh38]
Chr22:51063756 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.899T>G (p.Leu300Trp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608019] |
Chr22:50626234 [GRCh38]
Chr22:51064662 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.412C>G (p.Pro138Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608448] |
Chr22:50627219 [GRCh38]
Chr22:51065647 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.126G>A (p.Gly42=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607672] |
Chr22:50627654 [GRCh38]
Chr22:51066082 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.980-13C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608548] |
Chr22:50626076 [GRCh38]
Chr22:51064504 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+16G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607617] |
Chr22:50627150 [GRCh38]
Chr22:51065578 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1136C>A (p.Pro379Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607606] |
Chr22:50625653 [GRCh38]
Chr22:51064081 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1264_1265del (p.Leu422fs) |
microsatellite |
Metachromatic leukodystrophy [RCV003607643] |
Chr22:50625410..50625411 [GRCh38]
Chr22:51063838..51063839 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.685-5C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607686] |
Chr22:50626765 [GRCh38]
Chr22:51065193 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1451del (p.Asp484fs) |
deletion |
Metachromatic leukodystrophy [RCV003608135] |
Chr22:50625224 [GRCh38]
Chr22:51063652 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.738C>G (p.Arg246=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608141] |
Chr22:50626707 [GRCh38]
Chr22:51065135 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.979+20C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608587] |
Chr22:50626134 [GRCh38]
Chr22:51064562 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1254C>T (p.Ala418=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607038] |
Chr22:50625421 [GRCh38]
Chr22:51063849 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.475C>T (p.Gln159Ter) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607710] |
Chr22:50627043 [GRCh38]
Chr22:51065471 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.465+13C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607715] |
Chr22:50627153 [GRCh38]
Chr22:51065581 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.555C>T (p.Ala185=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607120] |
Chr22:50626963 [GRCh38]
Chr22:51065391 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1314_1315del (p.Asn440fs) |
deletion |
Metachromatic leukodystrophy [RCV003607742] |
Chr22:50625360..50625361 [GRCh38]
Chr22:51063788..51063789 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.928G>T (p.Gly310Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607745] |
Chr22:50626205 [GRCh38]
Chr22:51064633 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.855-24_907del |
deletion |
Metachromatic leukodystrophy [RCV003608213] |
Chr22:50626226..50626302 [GRCh38]
Chr22:51064654..51064730 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.684+14G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608634] |
Chr22:50626820 [GRCh38]
Chr22:51065248 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1107+12G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608519] |
Chr22:50625924 [GRCh38]
Chr22:51064352 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1507C>T (p.His503Tyr) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003876001] |
Chr22:50625168 [GRCh38]
Chr22:51063596 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1387C>T (p.Leu463=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607795] |
Chr22:50625288 [GRCh38]
Chr22:51063716 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.135C>G (p.Ser45Arg) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003608239] |
Chr22:50627645 [GRCh38]
Chr22:51066073 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.312G>A (p.Leu104=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607173] |
Chr22:50627319 [GRCh38]
Chr22:51065747 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.303C>G (p.Gly101=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003607190] |
Chr22:50627328 [GRCh38]
Chr22:51065756 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.536del (p.Val179fs) |
deletion |
Metachromatic leukodystrophy [RCV003608291] |
Chr22:50626982 [GRCh38]
Chr22:51065410 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.854+13_854+65del |
deletion |
Metachromatic leukodystrophy [RCV003828116] |
Chr22:50626526..50626578 [GRCh38]
Chr22:51064954..51065006 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1464G>A (p.Gln488=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003828137] |
Chr22:50625211 [GRCh38]
Chr22:51063639 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.684+16C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003811062] |
Chr22:50626818 [GRCh38]
Chr22:51065246 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.224+19C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003833923] |
Chr22:50627537 [GRCh38]
Chr22:51065965 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.685-12C>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003812117] |
Chr22:50626772 [GRCh38]
Chr22:51065200 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.769G>A (p.Asp257Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003852078] |
Chr22:50626676 [GRCh38]
Chr22:51065104 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.178C>A (p.Arg60=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003834655] |
Chr22:50627602 [GRCh38]
Chr22:51066030 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.869G>C (p.Arg290Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501659] |
Chr22:50626264 [GRCh38]
Chr22:51064692 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1459C>T (p.Leu487=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501386] |
Chr22:50625216 [GRCh38]
Chr22:51063644 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1211-15T>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003840440] |
Chr22:50625479 [GRCh38]
Chr22:51063907 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.863C>A (p.Thr288Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003817569] |
Chr22:50626270 [GRCh38]
Chr22:51064698 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1347G>T (p.Gly449=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500464] |
Chr22:50625328 [GRCh38]
Chr22:51063756 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+16G>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501160] |
Chr22:50627150 [GRCh38]
Chr22:51065578 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.198G>A (p.Val66=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500138] |
Chr22:50627582 [GRCh38]
Chr22:51066010 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1050G>C (p.Leu350=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501017] |
Chr22:50625993 [GRCh38]
Chr22:51064421 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.855-17C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501498] |
Chr22:50626295 [GRCh38]
Chr22:51064723 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1227T>C (p.Asp409=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501564] |
Chr22:50625448 [GRCh38]
Chr22:51063876 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1371C>T (p.Ala457=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500148] |
Chr22:50625304 [GRCh38]
Chr22:51063732 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.18G>A (p.Pro6=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500174] |
Chr22:50627762 [GRCh38]
Chr22:51066190 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1374G>C (p.Leu458=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501229] |
Chr22:50625301 [GRCh38]
Chr22:51063729 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.224+17G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501242] |
Chr22:50627539 [GRCh38]
Chr22:51065967 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.685-9del |
deletion |
Metachromatic leukodystrophy [RCV003500216] |
Chr22:50626769 [GRCh38]
Chr22:51065197 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.162G>A (p.Leu54=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501650] |
Chr22:50627618 [GRCh38]
Chr22:51066046 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1143C>T (p.Tyr381=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501884] |
Chr22:50625646 [GRCh38]
Chr22:51064074 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.684+10C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501705] |
Chr22:50626824 [GRCh38]
Chr22:51065252 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1330C>T (p.Leu444=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501877] |
Chr22:50625345 [GRCh38]
Chr22:51063773 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.684+18A>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501676] |
Chr22:50626816 [GRCh38]
Chr22:51065244 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.737_744dup (p.Phe249fs) |
duplication |
Metachromatic leukodystrophy [RCV003501727] |
Chr22:50626700..50626701 [GRCh38]
Chr22:51065128..51065129 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.1428dup (p.Ser477fs) |
duplication |
Metachromatic leukodystrophy [RCV003501754] |
Chr22:50625246..50625247 [GRCh38]
Chr22:51063674..51063675 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.629T>C (p.Leu210Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501755] |
Chr22:50626889 [GRCh38]
Chr22:51065317 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.136T>C (p.Ser46Pro) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501756] |
Chr22:50627644 [GRCh38]
Chr22:51066072 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1107+1G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501862] |
Chr22:50625935 [GRCh38]
Chr22:51064363 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.764A>C (p.Glu255Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003502002] |
Chr22:50626681 [GRCh38]
Chr22:51065109 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.685-18T>G |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003837188] |
Chr22:50626778 [GRCh38]
Chr22:51065206 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.326T>C (p.Val109Ala) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500995] |
Chr22:50627305 [GRCh38]
Chr22:51065733 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1176G>T (p.Arg392=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501048] |
Chr22:50625613 [GRCh38]
Chr22:51064041 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1107+15C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501764] |
Chr22:50625921 [GRCh38]
Chr22:51064349 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1210+18A>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501794] |
Chr22:50625561 [GRCh38]
Chr22:51063989 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1257C>T (p.Ser419=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501795] |
Chr22:50625418 [GRCh38]
Chr22:51063846 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.928G>A (p.Gly310Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500207] |
Chr22:50626205 [GRCh38]
Chr22:51064633 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.992A>G (p.Glu331Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500315] |
Chr22:50626051 [GRCh38]
Chr22:51064479 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1199T>C (p.Phe400Ser) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500383] |
Chr22:50625590 [GRCh38]
Chr22:51064018 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.855-17C>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501876] |
Chr22:50626295 [GRCh38]
Chr22:51064723 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1015C>T (p.Leu339=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501523] |
Chr22:50626028 [GRCh38]
Chr22:51064456 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1223G>A (p.Ser408Asn) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501565] |
Chr22:50625452 [GRCh38]
Chr22:51063880 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.224+14C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501812] |
Chr22:50627542 [GRCh38]
Chr22:51065970 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.159G>A (p.Gln53=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500886] |
Chr22:50627621 [GRCh38]
Chr22:51066049 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.854+18C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501968] |
Chr22:50626573 [GRCh38]
Chr22:51065001 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1108-8G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501996] |
Chr22:50625689 [GRCh38]
Chr22:51064117 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.868_873del (p.Arg290_Met291del) |
deletion |
Metachromatic leukodystrophy [RCV003501186] |
Chr22:50626260..50626265 [GRCh38]
Chr22:51064688..51064693 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.786C>G (p.Thr262=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500867] |
Chr22:50626659 [GRCh38]
Chr22:51065087 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.936C>A (p.Val312=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501397] |
Chr22:50626197 [GRCh38]
Chr22:51064625 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.269_335del (p.Tyr90fs) |
deletion |
Metachromatic leukodystrophy [RCV003500108] |
Chr22:50627296..50627362 [GRCh38]
Chr22:51065724..51065790 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.868C>G (p.Arg290Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003500470] |
Chr22:50626265 [GRCh38]
Chr22:51064693 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1005C>G (p.Ser335=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501003] |
Chr22:50626038 [GRCh38]
Chr22:51064466 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1089G>A (p.Leu363=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501038] |
Chr22:50625954 [GRCh38]
Chr22:51064382 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.949T>C (p.Leu317=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501039] |
Chr22:50626184 [GRCh38]
Chr22:51064612 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.931G>T (p.Gly311Cys) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501561] |
Chr22:50626202 [GRCh38]
Chr22:51064630 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.786C>T (p.Thr262=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003501118] |
Chr22:50626659 [GRCh38]
Chr22:51065087 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1458C>T (p.Ala486=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003823152] |
Chr22:50625217 [GRCh38]
Chr22:51063645 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.912G>A (p.Lys304=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003872536] |
Chr22:50626221 [GRCh38]
Chr22:51064649 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q13.33(chr22:51044719-51183834)x1 |
copy number loss |
not specified [RCV003986173] |
Chr22:51044719..51183834 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 |
copy number loss |
not specified [RCV003986178] |
Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 |
copy number loss |
not specified [RCV003986180] |
Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.855-18G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003869438] |
Chr22:50626296 [GRCh38]
Chr22:51064724 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) |
copy number loss |
Phelan-McDermid syndrome [RCV003986080] |
Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.684+20C>T |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003871419] |
Chr22:50626814 [GRCh38]
Chr22:51065242 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 |
copy number loss |
not specified [RCV003986171] |
Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.980-20G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003871944] |
Chr22:50626083 [GRCh38]
Chr22:51064511 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1 |
copy number loss |
not specified [RCV003986170] |
Chr22:49434634..51197838 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| GRCh37/hg19 22q13.33(chr22:50974309-51197838)x3 |
copy number gain |
not specified [RCV003986193] |
Chr22:50974309..51197838 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1 |
copy number loss |
not specified [RCV003986172] |
Chr22:48218869..51197838 [GRCh37]
Chr22:22q13.31-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.133A>G (p.Ser45Gly) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003847516] |
Chr22:50627647 [GRCh38]
Chr22:51066075 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.1107+19G>A |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003845923] |
Chr22:50625917 [GRCh38]
Chr22:51064345 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.579C>T (p.Pro193=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003864289] |
Chr22:50626939 [GRCh38]
Chr22:51065367 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1047A>G (p.Pro349=) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003861275] |
Chr22:50625996 [GRCh38]
Chr22:51064424 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.685-14G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003847974] |
Chr22:50626774 [GRCh38]
Chr22:51065202 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1210+14G>C |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003866337] |
Chr22:50625565 [GRCh38]
Chr22:51063993 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.465+20del |
deletion |
Metachromatic leukodystrophy [RCV003842733] |
Chr22:50627146 [GRCh38]
Chr22:51065574 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1 |
copy number loss |
not provided [RCV003885499] |
Chr22:49479980..51304566 [GRCh37]
Chr22:22q13.33 |
pathogenic |
| NM_000487.6(ARSA):c.*102C>T |
single nucleotide variant |
ARSA-related condition [RCV003947004] |
Chr22:50625043 [GRCh38]
Chr22:51063471 [GRCh37]
Chr22:22q13.33 |
likely benign |
| NM_000487.6(ARSA):c.1108-29C>T |
single nucleotide variant |
ARSA-related condition [RCV003951658] |
Chr22:50625710 [GRCh38]
Chr22:51064138 [GRCh37]
Chr22:22q13.33 |
likely benign |
| GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1 |
copy number loss |
not provided [RCV003885498] |
Chr22:49103529..51220722 [GRCh37]
Chr22:22q13.32-13.33 |
pathogenic |
| NM_000487.6(ARSA):c.737G>T (p.Arg246Leu) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003777393]|not specified [RCV003331831] |
Chr22:50626708 [GRCh38]
Chr22:51065136 [GRCh37]
Chr22:22q13.33 |
likely pathogenic|uncertain significance |
| NM_000487.6(ARSA):c.620C>A (p.Ala207Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003154875] |
Chr22:50626898 [GRCh38]
Chr22:51065326 [GRCh37]
Chr22:22q13.33 |
likely pathogenic |
| NM_000487.6(ARSA):c.545C>A (p.Pro182Gln) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003337755] |
Chr22:50626973 [GRCh38]
Chr22:51065401 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
| NM_000487.6(ARSA):c.1163T>A (p.Val388Asp) |
single nucleotide variant |
Metachromatic leukodystrophy [RCV003340904] |
Chr22:50625626 [GRCh38]
Chr22:51064054 [GRCh37]
Chr22:22q13.33 |
uncertain significance |
