NM_000263.4(NAGLU):c.1638T>C (p.Ser546=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001494639] |
Chr17:42543644 [GRCh38] Chr17:40695662 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000543925]|Mucopolysaccharidosis, MPS-III-B [RCV001276830]|not provided [RCV004710138] |
Chr17:42543989 [GRCh38] Chr17:40696007 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000023780]|Mucopolysaccharidosis, MPS-III-B [RCV001043861]|Sanfilippo syndrome [RCV000590258]|not provided [RCV000433629] |
Chr17:42543700 [GRCh38] Chr17:40695718 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000001626]|Mucopolysaccharidosis, MPS-III-B [RCV000817080]|not provided [RCV000078455] |
Chr17:42544027 [GRCh38] Chr17:40696045 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000001627]|Mucopolysaccharidosis, MPS-III-B [RCV000802847]|not provided [RCV000153533] |
Chr17:42543882 [GRCh38] Chr17:40695900 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) |
single nucleotide variant |
Mucopolysaccharidosis [RCV001030805]|Mucopolysaccharidosis, MPS-III-B [RCV000001628]|Mucopolysaccharidosis, MPS-III-B [RCV001041784]|not provided [RCV000485168] |
Chr17:42541074 [GRCh38] Chr17:40693092 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000001629]|Mucopolysaccharidosis, MPS-III-B [RCV001227283] |
Chr17:42543934 [GRCh38] Chr17:40695952 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) |
single nucleotide variant |
Mucopolysaccharidosis [RCV001030808]|Mucopolysaccharidosis, MPS-III-B [RCV000001631]|Mucopolysaccharidosis, MPS-III-B [RCV001214750]|not provided [RCV001579503] |
Chr17:42543933 [GRCh38] Chr17:40695951 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|not provided |
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) |
single nucleotide variant |
Mucopolysaccharidosis [RCV001030807]|Mucopolysaccharidosis, MPS-III-B [RCV000001632]|Mucopolysaccharidosis, MPS-III-B [RCV001043674]|not provided [RCV001729332] |
Chr17:42543568 [GRCh38] Chr17:40695586 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000001633]|Mucopolysaccharidosis, MPS-III-B [RCV001223228]|not provided [RCV002269255] |
Chr17:42543699 [GRCh38] Chr17:40695717 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000001634]|Mucopolysaccharidosis, MPS-III-B [RCV001851558] |
Chr17:42543700 [GRCh38] Chr17:40695718 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000001635]|Mucopolysaccharidosis, MPS-III-B [RCV002512655] |
Chr17:42536414 [GRCh38] Chr17:40688432 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000001636]|Mucopolysaccharidosis, MPS-III-B [RCV001851559]|NAGLU-related disorder [RCV003894784] |
Chr17:42541127 [GRCh38] Chr17:40693145 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000001637]|Mucopolysaccharidosis, MPS-III-B [RCV001214384] |
Chr17:42543450 [GRCh38] Chr17:40695468 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000001638]|Mucopolysaccharidosis, MPS-III-B [RCV001203422] |
Chr17:42538691 [GRCh38] Chr17:40690709 [GRCh37] Chr17:17q21.2 |
pathogenic |
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 |
copy number gain |
See cases [RCV000050957] |
Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
NM_000263.4(NAGLU):c.1355A>C (p.Glu452Ala) |
single nucleotide variant |
Tip-toe gait [RCV003319284] |
Chr17:42543361 [GRCh38] Chr17:40695379 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.813T>C (p.Phe271=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001494431]|not specified [RCV004587166] |
Chr17:42540998 [GRCh38] Chr17:40693016 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001495020] |
Chr17:42543749 [GRCh38] Chr17:40695767 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000132721]|Mucopolysaccharidosis, MPS-III-B [RCV001378699] |
Chr17:42543952 [GRCh38] Chr17:40695970 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000132722]|Mucopolysaccharidosis, MPS-III-B [RCV001036826] |
Chr17:42543955 [GRCh38] Chr17:40695973 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) |
deletion |
Hypertrichosis [RCV000626637]|Mucopolysaccharidosis, MPS-III-B [RCV000001630]|Mucopolysaccharidosis, MPS-III-B [RCV001047802]|not provided [RCV001588794] |
Chr17:42537517..42537526 [GRCh38] Chr17:40689535..40689544 [GRCh37] Chr17:17q21.2 |
pathogenic |
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 |
copy number gain |
See cases [RCV000052479] |
Chr17:39199873..45629579 [GRCh38] Chr17:37356126..43706945 [GRCh37] Chr17:34609652..41062728 [NCBI36] Chr17:17q12-21.31 |
pathogenic |
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001854380]|not provided [RCV000078454] |
Chr17:42543370 [GRCh38] Chr17:40695388 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000604099]|Mucopolysaccharidosis, MPS-III-B [RCV001516235]|not provided [RCV000675734]|not specified [RCV000078456] |
Chr17:42544215 [GRCh38] Chr17:40696233 [GRCh37] Chr17:17q21.2 |
benign|likely benign|uncertain significance |
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2V [RCV001778706]|Mucopolysaccharidosis, MPS-III-B [RCV000609064]|Mucopolysaccharidosis, MPS-III-B [RCV001523208]|not provided [RCV000588373]|not specified [RCV000078457] |
Chr17:42544215 [GRCh38] Chr17:42544215..42544216 [GRCh38] Chr17:40696233 [GRCh37] Chr17:40696233..40696234 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2V [RCV001543038]|Mucopolysaccharidosis, MPS-III-B [RCV000613241]|Mucopolysaccharidosis, MPS-III-B [RCV001523207]|NAGLU-related disorder [RCV003891532]|not provided [RCV000587380]|not specified [RCV000078458] |
Chr17:42537437 [GRCh38] Chr17:40689455 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000664563]|Mucopolysaccharidosis, MPS-III-B [RCV002514378]|not provided [RCV000078459] |
Chr17:42537517 [GRCh38] Chr17:40689535 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.830_832del (p.Cys277del) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001854381]|not provided [RCV000078460] |
Chr17:42541013..42541015 [GRCh38] Chr17:40693031..40693033 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000963953]|Mucopolysaccharidosis, MPS-III-B [RCV001123008]|not provided [RCV001698752]|not specified [RCV000078461] |
Chr17:42541118 [GRCh38] Chr17:40693136 [GRCh37] Chr17:17q21.2 |
benign|likely benign|uncertain significance |
NM_000263.4(NAGLU):c.531+50G>C |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2V [RCV001543039]|Mucopolysaccharidosis, MPS-III-B [RCV001543040]|not provided [RCV001711972]|not specified [RCV000175569] |
Chr17:42537595 [GRCh38] Chr17:40689613 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.944dup (p.Asn315fs) |
duplication |
not provided [RCV000178741] |
Chr17:42541127..42541128 [GRCh38] Chr17:40693145..40693146 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.29T>G (p.Val10Gly) |
single nucleotide variant |
not provided [RCV000173091] |
Chr17:42536301 [GRCh38] Chr17:40688319 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.154G>A (p.Val52Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003765083]|not provided [RCV000173092] |
Chr17:42536426 [GRCh38] Chr17:40688444 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 |
copy number gain |
See cases [RCV000137437] |
Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1 |
pathogenic |
NM_000263.4(NAGLU):c.480del (p.Asn160fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000256392]|Mucopolysaccharidosis, MPS-III-B [RCV003765570] |
Chr17:42537494 [GRCh38] Chr17:40689512 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV000256406] |
Chr17:42543949..42543950 [GRCh38] Chr17:40695967..40695968 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.383+1G>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000672966]|Mucopolysaccharidosis, MPS-III-B [RCV001850099]|not provided [RCV000153531] |
Chr17:42536656 [GRCh38] Chr17:40688674 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001083792]|Mucopolysaccharidosis, MPS-III-B [RCV001831957]|NAGLU-related disorder [RCV003965144]|not provided [RCV000153532] |
Chr17:42543328 [GRCh38] Chr17:40695346 [GRCh37] Chr17:17q21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2V [RCV000186582]|Mucopolysaccharidosis, MPS-III-B [RCV001852433]|Mucopolysaccharidosis, MPS-III-B [RCV003479050]|not provided [RCV000423370] |
Chr17:42543214 [GRCh38] Chr17:40695232 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001382879]|not provided [RCV000186583] |
Chr17:42536639 [GRCh38] Chr17:40688657 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.220dup (p.Arg74fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV000669838]|Mucopolysaccharidosis, MPS-III-B [RCV003767979]|not provided [RCV003319393] |
Chr17:42536491..42536492 [GRCh38] Chr17:40688509..40688510 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV000669256]|Mucopolysaccharidosis, MPS-III-B [RCV001855517]|not provided [RCV003133495] |
Chr17:42544188..42544190 [GRCh38] Chr17:40696206..40696208 [GRCh37] Chr17:17q21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000670584]|Mucopolysaccharidosis, MPS-III-B [RCV001861796] |
Chr17:42536484..42536502 [GRCh38] Chr17:40688502..40688520 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000382533]|Mucopolysaccharidosis, MPS-III-B [RCV001081797]|not provided [RCV000224285] |
Chr17:42537435 [GRCh38] Chr17:40689453 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000669643] |
Chr17:42543857 [GRCh38] Chr17:40695875 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1A>G (p.Met1Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003767252]|not provided [RCV000578605] |
Chr17:42536273 [GRCh38] Chr17:40688291 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) |
single nucleotide variant |
Inborn genetic diseases [RCV000622512]|Mucopolysaccharidosis, MPS-III-B [RCV002285379]|Mucopolysaccharidosis, MPS-III-B [RCV002531908] |
Chr17:42543997 [GRCh38] Chr17:40696015 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001494398] |
Chr17:42543284 [GRCh38] Chr17:40695302 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002521108]|Mucopolysaccharidosis, MPS-III-B [RCV000291577]|Mucopolysaccharidosis, MPS-III-B [RCV000823550]|not provided [RCV001699452] |
Chr17:42536442 [GRCh38] Chr17:40688460 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000294218]|Mucopolysaccharidosis, MPS-III-B [RCV002522962]|not provided [RCV004725166] |
Chr17:42540973 [GRCh38] Chr17:40692991 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.3(NAGLU):c.-167G>T |
single nucleotide variant |
Sanfilippo syndrome [RCV000259543]|not provided [RCV003422285] |
Chr17:42536106 [GRCh38] Chr17:40688124 [GRCh37] Chr17:17q21.2 |
benign|uncertain significance |
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000297983]|Mucopolysaccharidosis, MPS-III-B [RCV000910730] |
Chr17:42543278 [GRCh38] Chr17:40695296 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000269629]|Mucopolysaccharidosis, MPS-III-B [RCV000957709]|NAGLU-related disorder [RCV004751464] |
Chr17:42544163 [GRCh38] Chr17:40696181 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.3(NAGLU):c.-200G>C |
single nucleotide variant |
Sanfilippo syndrome [RCV000356572]|not provided [RCV001574709] |
Chr17:42536073 [GRCh38] Chr17:40688091 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.3(NAGLU):c.-81C>T |
single nucleotide variant |
Sanfilippo syndrome [RCV000322151] |
Chr17:42536192 [GRCh38] Chr17:40688210 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.3(NAGLU):c.-138A>G |
single nucleotide variant |
Sanfilippo syndrome [RCV000361769]|not provided [RCV001690070] |
Chr17:42536135 [GRCh38] Chr17:40688153 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_000263.3(NAGLU):c.-228C>G |
single nucleotide variant |
Sanfilippo syndrome [RCV000396247] |
Chr17:42536045 [GRCh38] Chr17:40688063 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.3(NAGLU):c.-275T>C |
single nucleotide variant |
Sanfilippo syndrome [RCV000314444] |
Chr17:42535998 [GRCh38] Chr17:40688016 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.3(NAGLU):c.-271A>G |
single nucleotide variant |
Sanfilippo syndrome [RCV000366880] |
Chr17:42536002 [GRCh38] Chr17:40688020 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000365725]|Mucopolysaccharidosis, MPS-III-B [RCV002522964] |
Chr17:42543912 [GRCh38] Chr17:40695930 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000325498]|Mucopolysaccharidosis, MPS-III-B [RCV000915198] |
Chr17:42536620 [GRCh38] Chr17:40688638 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000398123]|Mucopolysaccharidosis, MPS-III-B [RCV000915612]|not provided [RCV003884470] |
Chr17:42543509 [GRCh38] Chr17:40695527 [GRCh37] Chr17:17q21.2 |
benign|likely benign|uncertain significance |
NM_000263.3(NAGLU):c.-144G>A |
single nucleotide variant |
Sanfilippo syndrome [RCV000317108] |
Chr17:42536129 [GRCh38] Chr17:40688147 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.648dup (p.Ser217fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV002521987]|not provided [RCV000327069] |
Chr17:42538449..42538450 [GRCh38] Chr17:40690467..40690468 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002518010]|not provided [RCV000314943] |
Chr17:42543750 [GRCh38] Chr17:40695768 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000984288]|Mucopolysaccharidosis, MPS-III-B [RCV001068161]|not provided [RCV000332868] |
Chr17:42538685 [GRCh38] Chr17:40690703 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000308705]|Mucopolysaccharidosis, MPS-III-B [RCV000652884]|not provided [RCV001699316]|not specified [RCV001699453] |
Chr17:42543866 [GRCh38] Chr17:40695884 [GRCh37] Chr17:17q21.2 |
benign|likely benign|uncertain significance |
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003765584]|Mucopolysaccharidosistype IIIB [RCV001250255]|not provided [RCV000341295] |
Chr17:42538692 [GRCh38] Chr17:40690710 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) |
single nucleotide variant |
Intellectual disability [RCV001252583]|Mucopolysaccharidosis, MPS-III-B [RCV000765355]|Mucopolysaccharidosis, MPS-III-B [RCV001124069]|not provided [RCV000284729] |
Chr17:42543444 [GRCh38] Chr17:40695462 [GRCh37] Chr17:17q21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000403536]|Mucopolysaccharidosis, MPS-III-B [RCV001085002]|not provided [RCV000675731] |
Chr17:42543125 [GRCh38] Chr17:40695143 [GRCh37] Chr17:17q21.2 |
benign|likely benign|uncertain significance |
NM_000263.3(NAGLU):c.-82T>C |
single nucleotide variant |
Sanfilippo syndrome [RCV000264792] |
Chr17:42536191 [GRCh38] Chr17:40688209 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004021703]|Mucopolysaccharidosis, MPS-III-B [RCV000336458]|Mucopolysaccharidosis, MPS-III-B [RCV002522963] |
Chr17:42543501 [GRCh38] Chr17:40695519 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.*198del |
deletion |
Sanfilippo syndrome [RCV000277722] |
Chr17:42544433 [GRCh38] Chr17:40696451 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.3(NAGLU):c.-212G>C |
single nucleotide variant |
Sanfilippo syndrome [RCV000299355] |
Chr17:42536061 [GRCh38] Chr17:40688079 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000609923]|Mucopolysaccharidosis, MPS-III-B [RCV001082045]|not provided [RCV000675732] |
Chr17:42543521 [GRCh38] Chr17:40695539 [GRCh37] Chr17:17q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000386340]|Mucopolysaccharidosis, MPS-III-B [RCV002522961]|not provided [RCV003480601] |
Chr17:42538674 [GRCh38] Chr17:40690692 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000652883]|Mucopolysaccharidosis, MPS-III-B [RCV001126735]|not provided [RCV001532303]|not specified [RCV000365807] |
Chr17:42543794 [GRCh38] Chr17:40695812 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000673237]|not provided [RCV000403650] |
Chr17:42537436 [GRCh38] Chr17:40689454 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1322C>G (p.Thr441Arg) |
single nucleotide variant |
not provided [RCV000265107] |
Chr17:42543328 [GRCh38] Chr17:40695346 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000305124]|Mucopolysaccharidosis, MPS-III-B [RCV000907143]|NAGLU-related disorder [RCV003922370] |
Chr17:42543668 [GRCh38] Chr17:40695686 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000352741]|Mucopolysaccharidosis, MPS-III-B [RCV000974680]|NAGLU-related disorder [RCV004751463]|not provided [RCV001564877] |
Chr17:42538482 [GRCh38] Chr17:40690500 [GRCh37] Chr17:17q21.2 |
benign|likely benign|uncertain significance |
NM_000263.4(NAGLU):c.736G>C (p.Ala246Pro) |
single nucleotide variant |
not provided [RCV001573044]|not specified [RCV003323906] |
Chr17:42538727 [GRCh38] Chr17:40690745 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.3(NAGLU):c.-78C>G |
single nucleotide variant |
Sanfilippo syndrome [RCV000383762] |
Chr17:42536195 [GRCh38] Chr17:40688213 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000357538] |
Chr17:42543787 [GRCh38] Chr17:40695805 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) |
single nucleotide variant |
Mucopolysaccharidosis [RCV001030809]|Mucopolysaccharidosis, MPS-III-B [RCV000625994]|Mucopolysaccharidosis, MPS-III-B [RCV000686454]|not provided [RCV001268050] |
Chr17:42543840 [GRCh38] Chr17:40695858 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|not provided |
NM_000263.4(NAGLU):c.886del (p.Leu296fs) |
deletion |
Inborn genetic diseases [RCV000623224]|Mucopolysaccharidosis, MPS-III-B [RCV002531909] |
Chr17:42541070 [GRCh38] Chr17:40693088 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000652882]|Mucopolysaccharidosis, MPS-III-B [RCV001829637]|not provided [RCV000592453] |
Chr17:42543493 [GRCh38] Chr17:40695511 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002530901]|Mucopolysaccharidosis, MPS-III-B [RCV000761492]|Mucopolysaccharidosis, MPS-III-B [RCV001238278]|Sanfilippo syndrome [RCV000589472]|not provided [RCV001783091] |
Chr17:42543603 [GRCh38] Chr17:40695621 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) |
single nucleotide variant |
Hypertrichosis [RCV000626636]|Mucopolysaccharidosis, MPS-III-B [RCV000409594]|Mucopolysaccharidosis, MPS-III-B [RCV000705481]|not provided [RCV002275001] |
Chr17:42537433 [GRCh38] Chr17:40689451 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000411961]|Mucopolysaccharidosis, MPS-III-B [RCV003766125] |
Chr17:42541191 [GRCh38] Chr17:40693209 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 17q21.2(chr17:40690377-40705781)x3 |
copy number gain |
See cases [RCV000448718] |
Chr17:40690377..40705781 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV000624490]|Mucopolysaccharidosis, MPS-III-B [RCV000501703]|Mucopolysaccharidosis, MPS-III-B [RCV001865629]|Tip-toe gait [RCV003319203]|not provided [RCV001591146] |
Chr17:42541119 [GRCh38] Chr17:40693137 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000668984]|Mucopolysaccharidosis, MPS-III-B [RCV001868227]|not provided [RCV000675733] |
Chr17:42543564 [GRCh38] Chr17:40695582 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000669494]|Mucopolysaccharidosis, MPS-III-B [RCV001855520]|not provided [RCV003227824] |
Chr17:42543451 [GRCh38] Chr17:40695469 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_000263.4(NAGLU):c.809del (p.His270fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000668905] |
Chr17:42540994 [GRCh38] Chr17:40693012 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.764+19C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001515738]|not provided [RCV000675730]|not specified [RCV000596837] |
Chr17:42538774 [GRCh38] Chr17:40690792 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV000672345]|Mucopolysaccharidosis, MPS-III-B [RCV001855578]|not provided [RCV001579932] |
Chr17:42536480..42536481 [GRCh38] Chr17:40688498..40688499 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV000652885]|Mucopolysaccharidosis, MPS-III-B [RCV001331106]|NAGLU-related disorder [RCV003937989]|not provided [RCV001090844]|not specified [RCV001824856] |
Chr17:42536277..42536278 [GRCh38] Chr17:40688295..40688296 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000625993]|not provided [RCV001784182] |
Chr17:42543921 [GRCh38] Chr17:40695939 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) |
single nucleotide variant |
Intellectual disability [RCV001252580]|Mucopolysaccharidosis, MPS-III-B [RCV000668973]|Mucopolysaccharidosis, MPS-III-B [RCV003767970]|not provided [RCV004768533] |
Chr17:42536615 [GRCh38] Chr17:40688633 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|likely benign |
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000625281]|Mucopolysaccharidosis, MPS-III-B [RCV001080068]|NAGLU-related disorder [RCV003935737]|not provided [RCV000761954]|not specified [RCV001701131] |
Chr17:42543452 [GRCh38] Chr17:40695470 [GRCh37] Chr17:17q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_000263.4(NAGLU):c.1134C>T (p.Leu378=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003790922] |
Chr17:42543140 [GRCh38] Chr17:40695158 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000673096]|Mucopolysaccharidosis, MPS-III-B [RCV001070181]|not provided [RCV003489793] |
Chr17:42543700 [GRCh38] Chr17:40695718 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000673123] |
Chr17:42543938 [GRCh38] Chr17:40695956 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000673135]|Mucopolysaccharidosis, MPS-III-B [RCV001855591]|not provided [RCV002245569] |
Chr17:42541189 [GRCh38] Chr17:40693207 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) |
single nucleotide variant |
Intellectual disability [RCV001252576]|Mucopolysaccharidosis, MPS-III-B [RCV000664504]|Mucopolysaccharidosis, MPS-III-B [RCV002530629] |
Chr17:42541030 [GRCh38] Chr17:40693048 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000672689]|Mucopolysaccharidosis, MPS-III-B [RCV003767998] |
Chr17:42544068 [GRCh38] Chr17:40696086 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.867del (p.Ile290fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000673342] |
Chr17:42541049 [GRCh38] Chr17:40693067 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2V [RCV000662124]|Mucopolysaccharidosis, MPS-III-B [RCV000662123]|Mucopolysaccharidosis, MPS-III-B [RCV000765354] |
Chr17:42543310 [GRCh38] Chr17:40695328 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.928G>A (p.Gly310Arg) |
single nucleotide variant |
not provided [RCV000658258] |
Chr17:42541113 [GRCh38] Chr17:40693131 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000669295]|Mucopolysaccharidosis, MPS-III-B [RCV002532086] |
Chr17:42544164 [GRCh38] Chr17:40696182 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000669309] |
Chr17:42543444..42543453 [GRCh38] Chr17:40695462..40695471 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV000669799]|Mucopolysaccharidosis, MPS-III-B [RCV001861782] |
Chr17:42536283..42536284 [GRCh38] Chr17:40688301..40688302 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000671657]|Mucopolysaccharidosis, MPS-III-B [RCV001868256]|not provided [RCV004721541] |
Chr17:42536416 [GRCh38] Chr17:40688434 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000673658]|not provided [RCV001268871] |
Chr17:42543711 [GRCh38] Chr17:40695729 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000670027]|Mucopolysaccharidosis, MPS-III-B [RCV001855534]|not provided [RCV001532304] |
Chr17:42543817 [GRCh38] Chr17:40695835 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000668870]|Mucopolysaccharidosis, MPS-III-B [RCV003767969]|Mucopolysaccharidosistype IIIB [RCV001250253] |
Chr17:42543342 [GRCh38] Chr17:40695360 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance|no classifications from unflagged records |
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000670156]|Mucopolysaccharidosis, MPS-III-B [RCV002485551] |
Chr17:42543627 [GRCh38] Chr17:40695645 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000673872] |
Chr17:42536480 [GRCh38] Chr17:40688498 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000667938]|Mucopolysaccharidosis, MPS-III-B [RCV001214720] |
Chr17:42536630 [GRCh38] Chr17:40688648 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000673953]|Mucopolysaccharidosis, MPS-III-B [RCV001861828] |
Chr17:42543068 [GRCh38] Chr17:40695086 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.531+46_531+75del |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000671529] |
Chr17:42537588..42537617 [GRCh38] Chr17:40689606..40689635 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV000674184] |
Chr17:42543466..42543467 [GRCh38] Chr17:40695484..40695485 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) |
single nucleotide variant |
Mucopolysaccharidosis [RCV001030806]|Mucopolysaccharidosis, MPS-III-B [RCV000668600]|Mucopolysaccharidosis, MPS-III-B [RCV001378697] |
Chr17:42541185 [GRCh38] Chr17:40693203 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000668667]|Mucopolysaccharidosis, MPS-III-B [RCV001060496]|NAGLU-related disorder [RCV003403552] |
Chr17:42544122 [GRCh38] Chr17:40696140 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000721982]|Mucopolysaccharidosis, MPS-III-B [RCV003768167] |
Chr17:42536581 [GRCh38] Chr17:40688599 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000672379]|Mucopolysaccharidosis, MPS-III-B [RCV001855579]|not specified [RCV002265852] |
Chr17:42543235 [GRCh38] Chr17:40695253 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000790380] |
Chr17:42543552 [GRCh38] Chr17:40695570 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000674393] |
Chr17:42544059..42544060 [GRCh38] Chr17:40696077..40696078 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000666920]|Mucopolysaccharidosis, MPS-III-B [RCV002530702] |
Chr17:42543869 [GRCh38] Chr17:40695887 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000674604]|Mucopolysaccharidosis, MPS-III-B [RCV001861844] |
Chr17:42537475 [GRCh38] Chr17:40689493 [GRCh37] Chr17:17q21.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla) |
insertion |
Mucopolysaccharidosis, MPS-III-B [RCV000667105]|Mucopolysaccharidosis, MPS-III-B [RCV001240804] |
Chr17:42536473..42536474 [GRCh38] Chr17:40688491..40688492 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV000673362] |
Chr17:42537526..42537528 [GRCh38] Chr17:40689544..40689546 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000673421] |
Chr17:42536284..42536287 [GRCh38] Chr17:40688302..40688305 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV000669698] |
Chr17:42536274..42536275 [GRCh38] Chr17:40688292..40688293 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000667347]|Mucopolysaccharidosis, MPS-III-B [RCV002532063] |
Chr17:42537437..42537439 [GRCh38] Chr17:40689455..40689457 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000670297]|Mucopolysaccharidosis, MPS-III-B [RCV001861790] |
Chr17:42544119 [GRCh38] Chr17:40696137 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000670847] |
Chr17:42543427 [GRCh38] Chr17:40695445 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV000673858] |
Chr17:42541017..42541020 [GRCh38] Chr17:40693035..40693038 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.193del (p.Tyr65fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000671324] |
Chr17:42536465 [GRCh38] Chr17:40688483 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000671351] |
Chr17:42543400..42543402 [GRCh38] Chr17:40695418..40695420 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000671623] |
Chr17:42537479..42537481 [GRCh38] Chr17:40689497..40689499 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000674208]|Mucopolysaccharidosis, MPS-III-B [RCV001861836]|not provided [RCV003133502] |
Chr17:42544235 [GRCh38] Chr17:40696253 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000667678] |
Chr17:42543714 [GRCh38] Chr17:40695732 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1200del (p.Gln400fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000672859]|Mucopolysaccharidosis, MPS-III-B [RCV001855587] |
Chr17:42543206 [GRCh38] Chr17:40695224 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000672989]|Mucopolysaccharidosis, MPS-III-B [RCV001861816] |
Chr17:42536546 [GRCh38] Chr17:40688564 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000263.4(NAGLU):c.82del (p.Glu28fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000674339] |
Chr17:42536352 [GRCh38] Chr17:40688370 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000665801]|Mucopolysaccharidosis, MPS-III-B [RCV001386358] |
Chr17:42543431 [GRCh38] Chr17:40695449 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1995del (p.Leu666fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000674368] |
Chr17:42543998 [GRCh38] Chr17:40696016 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000674403]|Mucopolysaccharidosis, MPS-III-B [RCV001855608]|not provided [RCV004768546]|not specified [RCV001193369] |
Chr17:42543778 [GRCh38] Chr17:40695796 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.384-1G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000668095]|Mucopolysaccharidosis, MPS-III-B [RCV002530736] |
Chr17:42537397 [GRCh38] Chr17:40689415 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000668171]|Mucopolysaccharidosis, MPS-III-B [RCV000819008]|not provided [RCV003117471] |
Chr17:42543247 [GRCh38] Chr17:40695265 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000668177] |
Chr17:42536641..42536646 [GRCh38] Chr17:40688659..40688664 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000668224]|not provided [RCV000996550] |
Chr17:42538671 [GRCh38] Chr17:40690689 [GRCh37] Chr17:17q21.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000673665]|Mucopolysaccharidosis, MPS-III-B [RCV001218806]|not provided [RCV001784286] |
Chr17:42543099 [GRCh38] Chr17:40695117 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000674733]|Mucopolysaccharidosis, MPS-III-B [RCV003768013] |
Chr17:42543680 [GRCh38] Chr17:40695698 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000668270]|Mucopolysaccharidosis, MPS-III-B [RCV001206756] |
Chr17:42543396 [GRCh38] Chr17:40695414 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000668384]|Mucopolysaccharidosis, MPS-III-B [RCV001855498]|NAGLU-related disorder [RCV004751657] |
Chr17:42541059 [GRCh38] Chr17:40693077 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000668435]|Mucopolysaccharidosis, MPS-III-B [RCV001248721]|Tip-toe gait [RCV001838091]|not provided [RCV003140063] |
Chr17:42544026 [GRCh38] Chr17:40696044 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV000674044]|Mucopolysaccharidosis, MPS-III-B [RCV001868276] |
Chr17:42536473..42536474 [GRCh38] Chr17:40688491..40688492 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000668625]|Mucopolysaccharidosis, MPS-III-B [RCV003767964] |
Chr17:42536274 [GRCh38] Chr17:40688292 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000672754] |
Chr17:42540979..42540986 [GRCh38] Chr17:40692997..40693004 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV000666519] |
Chr17:42536527..42536528 [GRCh38] Chr17:40688545..40688546 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000674675] |
Chr17:42543167..42543181 [GRCh38] Chr17:40695185..40695199 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000666363]|Mucopolysaccharidosis, MPS-III-B [RCV001043279] |
Chr17:42543217 [GRCh38] Chr17:40695235 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000673016]|Mucopolysaccharidosis, MPS-III-B [RCV002532140] |
Chr17:42544238 [GRCh38] Chr17:40696256 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000666575] |
Chr17:42543898..42543908 [GRCh38] Chr17:40695916..40695926 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV000674055]|Mucopolysaccharidosis, MPS-III-B [RCV001243748] |
Chr17:42543452..42543453 [GRCh38] Chr17:40695470..40695471 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000673248] |
Chr17:42536296..42536301 [GRCh38] Chr17:40688314..40688319 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1112del (p.Gly371fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000674791] |
Chr17:42543116 [GRCh38] Chr17:40695134 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000666674]|Mucopolysaccharidosis, MPS-III-B [RCV001855464] |
Chr17:42536276 [GRCh38] Chr17:40688294 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 17q21.2(chr17:40570771-40797461)x3 |
copy number gain |
not provided [RCV000683935] |
Chr17:40570771..40797461 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000685743] |
Chr17:42543096 [GRCh38] Chr17:40695114 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000699966]|Mucopolysaccharidosis, MPS-III-B [RCV001276828]|NAGLU-related disorder [RCV003411631] |
Chr17:42538376 [GRCh38] Chr17:40690394 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV000714793] |
Chr17:42538339..42538340 [GRCh38] Chr17:40690357..40690358 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000693826] |
Chr17:42543979 [GRCh38] Chr17:40695997 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV000696910] |
Chr17:42536481..42536504 [GRCh38] Chr17:40688499..40688522 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1022-147G>A |
single nucleotide variant |
not provided [RCV001609134] |
Chr17:42542881 [GRCh38] Chr17:40694899 [GRCh37] Chr17:17q21.2 |
benign |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_000263.4(NAGLU):c.159G>A (p.Glu53=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001467150] |
Chr17:42536431 [GRCh38] Chr17:40688449 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.531+157G>A |
single nucleotide variant |
not provided [RCV001584748] |
Chr17:42537702 [GRCh38] Chr17:40689720 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1376C>T (p.Ala459Val) |
single nucleotide variant |
Spastic ataxia [RCV001647224] |
Chr17:42543382 [GRCh38] Chr17:40695400 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000979555] |
Chr17:42543341 [GRCh38] Chr17:40695359 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.81G>C (p.Arg27=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001455636] |
Chr17:42536353 [GRCh38] Chr17:40688371 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000761448] |
Chr17:42543319 [GRCh38] Chr17:40695337 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001855946]|Tip-toe gait [RCV001580139]|not provided [RCV000761953] |
Chr17:42541185 [GRCh38] Chr17:40693203 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003768294]|not provided [RCV000761955] |
Chr17:42544050 [GRCh38] Chr17:40696068 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000989852]|Mucopolysaccharidosis, MPS-III-B [RCV002549732] |
Chr17:42541096 [GRCh38] Chr17:40693114 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001065857] |
Chr17:42538692 [GRCh38] Chr17:40690710 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000790558]|Mucopolysaccharidosis, MPS-III-B [RCV001856244] |
Chr17:42536502 [GRCh38] Chr17:40688520 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp) |
single nucleotide variant |
Mucopolysaccharidosis [RCV001030812] |
Chr17:42537543 [GRCh38] Chr17:40689561 [GRCh37] Chr17:17q21.2 |
pathogenic|not provided |
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000902719]|Mucopolysaccharidosis, MPS-III-B [RCV001274195] |
Chr17:42543905 [GRCh38] Chr17:40695923 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001274194]|Mucopolysaccharidosis, MPS-III-B [RCV001466353]|not provided [RCV004705992] |
Chr17:42543827 [GRCh38] Chr17:40695845 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000945155] |
Chr17:42543038 [GRCh38] Chr17:40695056 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000899423]|Mucopolysaccharidosis, MPS-III-B [RCV001126733]|NAGLU-related disorder [RCV003950536] |
Chr17:42543563 [GRCh38] Chr17:40695581 [GRCh37] Chr17:17q21.2 |
benign|likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000967703]|Mucopolysaccharidosis, MPS-III-B [RCV001274191]|NAGLU-related disorder [RCV003916241]|not provided [RCV004710223] |
Chr17:42543569 [GRCh38] Chr17:40695587 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000947824]|Mucopolysaccharidosis, MPS-III-B [RCV001274193] |
Chr17:42543803 [GRCh38] Chr17:40695821 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.383+7C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000884338]|Mucopolysaccharidosis, MPS-III-B [RCV001274188] |
Chr17:42536662 [GRCh38] Chr17:40688680 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000966476]|Mucopolysaccharidosis, MPS-III-B [RCV001276829] |
Chr17:42543352 [GRCh38] Chr17:40695370 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.18G>A (p.Val6=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001458335] |
Chr17:42536290 [GRCh38] Chr17:40688308 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000929030]|Mucopolysaccharidosis, MPS-III-B [RCV001123006] |
Chr17:42537524 [GRCh38] Chr17:40689542 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.771C>T (p.Phe257=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001423911] |
Chr17:42540956 [GRCh38] Chr17:40692974 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.963C>A (p.Ser321=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003769281] |
Chr17:42541148 [GRCh38] Chr17:40693166 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000981298] |
Chr17:42541112 [GRCh38] Chr17:40693130 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2132G>A (p.Ser711Asn) |
single nucleotide variant |
not provided [RCV001810622] |
Chr17:42544138 [GRCh38] Chr17:40696156 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.531+1G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001059597]|Mucopolysaccharidosis, MPS-III-B [RCV001832535] |
Chr17:42537546 [GRCh38] Chr17:40689564 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) |
single nucleotide variant |
Mucopolysaccharidosis [RCV001030810]|Mucopolysaccharidosis, MPS-III-B [RCV000779220]|Mucopolysaccharidosis, MPS-III-B [RCV000806351]|NAGLU-related disorder [RCV003396352] |
Chr17:42543906 [GRCh38] Chr17:40695924 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000778497]|Mucopolysaccharidosis, MPS-III-B [RCV001305250]|not specified [RCV001805845] |
Chr17:42543079 [GRCh38] Chr17:40695097 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.996T>C (p.Thr332=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001504222] |
Chr17:42541181 [GRCh38] Chr17:40693199 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+10C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000908276] |
Chr17:42538765 [GRCh38] Chr17:40690783 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000914489] |
Chr17:42543494 [GRCh38] Chr17:40695512 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.969G>A (p.Glu323=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001472008] |
Chr17:42541154 [GRCh38] Chr17:40693172 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000942136] |
Chr17:42543683 [GRCh38] Chr17:40695701 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.48C>T (p.Ala16=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000983417] |
Chr17:42536320 [GRCh38] Chr17:40688338 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.786C>T (p.Val262=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001464977] |
Chr17:42540971 [GRCh38] Chr17:40692989 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000938787]|Mucopolysaccharidosis, MPS-III-B [RCV001127138] |
Chr17:42544049 [GRCh38] Chr17:40696067 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1941C>A (p.Thr647=) |
single nucleotide variant |
not provided [RCV000980278] |
Chr17:42543947 [GRCh38] Chr17:40695965 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000893221]|Mucopolysaccharidosis, MPS-III-B [RCV001124068] |
Chr17:42543407 [GRCh38] Chr17:40695425 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000976707]|Mucopolysaccharidosis, MPS-III-B [RCV001827077] |
Chr17:42543485 [GRCh38] Chr17:40695503 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000817898] |
Chr17:42543952 [GRCh38] Chr17:40695970 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1021+120C>T |
single nucleotide variant |
not provided [RCV000842787] |
Chr17:42541326 [GRCh38] Chr17:40693344 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000801797]|Mucopolysaccharidosis, MPS-III-B [RCV001830727] |
Chr17:42537469 [GRCh38] Chr17:40689487 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) |
single nucleotide variant |
Inborn genetic diseases [RCV004649364]|Mucopolysaccharidosis, MPS-III-B [RCV000893474]|Mucopolysaccharidosis, MPS-III-B [RCV001124071] |
Chr17:42543473 [GRCh38] Chr17:40695491 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000989853]|Mucopolysaccharidosis, MPS-III-B [RCV002549733] |
Chr17:42541189 [GRCh38] Chr17:40693207 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000796856]|not specified [RCV004526026] |
Chr17:42543283 [GRCh38] Chr17:40695301 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000792982] |
Chr17:42538692 [GRCh38] Chr17:40690710 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000790381] |
Chr17:42543975 [GRCh38] Chr17:40695993 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000816215] |
Chr17:42544048 [GRCh38] Chr17:40696066 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000790559]|Mucopolysaccharidosis, MPS-III-B [RCV003768478] |
Chr17:42543150 [GRCh38] Chr17:40695168 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.532-239G>C |
single nucleotide variant |
not provided [RCV000842786] |
Chr17:42538100 [GRCh38] Chr17:40690118 [GRCh37] Chr17:17q21.2 |
benign |
GRCh37/hg19 17q21.2(chr17:40595473-40785031)x3 |
copy number gain |
not provided [RCV000847110] |
Chr17:40595473..40785031 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.873C>T (p.Ile291=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000914878] |
Chr17:42541058 [GRCh38] Chr17:40693076 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000989851] |
Chr17:42536517 [GRCh38] Chr17:40688535 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001043921]|Mucopolysaccharidosis, MPS-III-B [RCV003155343] |
Chr17:42541111 [GRCh38] Chr17:40693129 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001211634] |
Chr17:42541012 [GRCh38] Chr17:40693030 [GRCh37] Chr17:17q21.2 |
uncertain significance |
GRCh37/hg19 17q21.2(chr17:40583927-40778487)x3 |
copy number gain |
not provided [RCV000846911] |
Chr17:40583927..40778487 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.753G>A (p.Glu251=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001240225]|Mucopolysaccharidosis, MPS-III-B [RCV001834117] |
Chr17:42538744 [GRCh38] Chr17:40690762 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001205178] |
Chr17:42536320..42536321 [GRCh38] Chr17:40688338..40688339 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001226134]|Mucopolysaccharidosis, MPS-III-B [RCV001828803] |
Chr17:42543571 [GRCh38] Chr17:40695589 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001211593] |
Chr17:42536585 [GRCh38] Chr17:40688603 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly) |
indel |
Mucopolysaccharidosis, MPS-III-B [RCV001247516] |
Chr17:42544214..42544215 [GRCh38] Chr17:40696232..40696233 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002068728]|NAGLU-related disorder [RCV003411940]|not provided [RCV000996549] |
Chr17:42538438 [GRCh38] Chr17:40690456 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001869393]|not provided [RCV000996551] |
Chr17:42543273 [GRCh38] Chr17:40695291 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001450300]|Mucopolysaccharidosis, MPS-III-B [RCV001832314]|NAGLU-related disorder [RCV003928646]|not provided [RCV000996552] |
Chr17:42543629 [GRCh38] Chr17:40695647 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.2150G>C (p.Ser717Thr) |
single nucleotide variant |
not provided [RCV000996553] |
Chr17:42544156 [GRCh38] Chr17:40696174 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001127139] |
Chr17:42544152 [GRCh38] Chr17:40696170 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003388937]|Mucopolysaccharidosis, MPS-III-B [RCV003770292]|Mucopolysaccharidosistype IIIB [RCV001250254] |
Chr17:42536563 [GRCh38] Chr17:40688581 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001068784] |
Chr17:42543294..42543295 [GRCh38] Chr17:40695312..40695313 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001377261]|not provided [RCV001090845] |
Chr17:42543360 [GRCh38] Chr17:40695378 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001126734]|Mucopolysaccharidosis, MPS-III-B [RCV001450753]|NAGLU-related disorder [RCV003898127]|not provided [RCV004546605] |
Chr17:42543629 [GRCh38] Chr17:40695647 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003779841]|not specified [RCV003230900] |
Chr17:42537475 [GRCh38] Chr17:40689493 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NC_000017.11:g.42535722G>T |
single nucleotide variant |
not provided [RCV001563146] |
Chr17:42535722 [GRCh38] Chr17:40687740 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001865986]|See cases [RCV003156140]|not provided [RCV001563235] |
Chr17:42543218 [GRCh38] Chr17:40695236 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1022-338C>T |
single nucleotide variant |
not provided [RCV001616371] |
Chr17:42542690 [GRCh38] Chr17:40694708 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.942del (p.Phe314fs) |
deletion |
not provided [RCV001532302] |
Chr17:42541127 [GRCh38] Chr17:40693145 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1021+100C>T |
single nucleotide variant |
not provided [RCV001716684] |
Chr17:42541306 [GRCh38] Chr17:40693324 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001826393]|Mucopolysaccharidosis, MPS-III-B [RCV002570675]|not provided [RCV001547422] |
Chr17:42543441 [GRCh38] Chr17:40695459 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2V [RCV001578638]|Mucopolysaccharidosis, MPS-III-B [RCV001578684]|Mucopolysaccharidosis, MPS-III-B [RCV001866081] |
Chr17:42543337 [GRCh38] Chr17:40695355 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.282C>T (p.Arg94=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000929583] |
Chr17:42536554 [GRCh38] Chr17:40688572 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000896477]|Mucopolysaccharidosis, MPS-III-B [RCV001274190] |
Chr17:42543092 [GRCh38] Chr17:40695110 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000931100] |
Chr17:42543119 [GRCh38] Chr17:40695137 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.780C>T (p.Val260=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000929839] |
Chr17:42540965 [GRCh38] Chr17:40692983 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000941397]|Mucopolysaccharidosis, MPS-III-B [RCV001832157] |
Chr17:42543359 [GRCh38] Chr17:40695377 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001487145] |
Chr17:42541190 [GRCh38] Chr17:40693208 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000962592]|Mucopolysaccharidosis, MPS-III-B [RCV001124070] |
Chr17:42543470 [GRCh38] Chr17:40695488 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000887020]|Mucopolysaccharidosis, MPS-III-B [RCV001274192] |
Chr17:42543623 [GRCh38] Chr17:40695641 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.351G>T (p.Val117=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000930765] |
Chr17:42536623 [GRCh38] Chr17:40688641 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.708C>T (p.Phe236=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000932154] |
Chr17:42538699 [GRCh38] Chr17:40690717 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.723G>A (p.Val241=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000920662]|Mucopolysaccharidosis, MPS-III-B [RCV001274189]|not provided [RCV001726371] |
Chr17:42538714 [GRCh38] Chr17:40690732 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV000930152]|Mucopolysaccharidosis, MPS-III-B [RCV001832113] |
Chr17:42541056 [GRCh38] Chr17:40693074 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.59G>A (p.Gly20Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001127039] |
Chr17:42536331 [GRCh38] Chr17:40688349 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001127136]|Mucopolysaccharidosis, MPS-III-B [RCV001856658] |
Chr17:42544032 [GRCh38] Chr17:40696050 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.408C>T (p.Cys136=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001243142]|Mucopolysaccharidosis, MPS-III-B [RCV001835155] |
Chr17:42537422 [GRCh38] Chr17:40689440 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001243909]|Mucopolysaccharidosis, MPS-III-B [RCV001835187] |
Chr17:42536331 [GRCh38] Chr17:40688349 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1552del (p.Val518fs) |
deletion |
not provided [RCV001090846] |
Chr17:42543557 [GRCh38] Chr17:40695575 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001241282] |
Chr17:42544206..42544207 [GRCh38] Chr17:40696224..40696225 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001244118]|Mucopolysaccharidosis, MPS-III-B [RCV001835196] |
Chr17:42536513 [GRCh38] Chr17:40688531 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.765-238del |
deletion |
not provided [RCV001567124] |
Chr17:42540696 [GRCh38] Chr17:40692714 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-284A>C |
single nucleotide variant |
not provided [RCV001563544] |
Chr17:42537114 [GRCh38] Chr17:40689132 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu) |
single nucleotide variant |
Intellectual disability [RCV001263373]|Mucopolysaccharidosis, MPS-III-B [RCV001371823]|Mucopolysaccharidosis, MPS-III-B [RCV001835354] |
Chr17:42536625 [GRCh38] Chr17:40688643 [GRCh37] Chr17:17q21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000263.4(NAGLU):c.1021+274G>A |
single nucleotide variant |
not provided [RCV001659332] |
Chr17:42541480 [GRCh38] Chr17:40693498 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.765-330T>C |
single nucleotide variant |
not provided [RCV001719671] |
Chr17:42540620 [GRCh38] Chr17:40692638 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.750C>T (p.Pro250=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001123007]|Mucopolysaccharidosis, MPS-III-B [RCV001451145] |
Chr17:42538741 [GRCh38] Chr17:40690759 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001123089]|Mucopolysaccharidosis, MPS-III-B [RCV002558218] |
Chr17:42544191 [GRCh38] Chr17:40696209 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.*174A>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001123090] |
Chr17:42544412 [GRCh38] Chr17:40696430 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.817T>C (p.Cys273Arg) |
single nucleotide variant |
Intellectual disability [RCV001252578] |
Chr17:42541002 [GRCh38] Chr17:40693020 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1892G>T (p.Ser631Ile) |
single nucleotide variant |
Intellectual disability [RCV001252582] |
Chr17:42543898 [GRCh38] Chr17:40695916 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001127040] |
Chr17:42536627 [GRCh38] Chr17:40688645 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001127134]|Mucopolysaccharidosis, MPS-III-B [RCV002556778] |
Chr17:42543883 [GRCh38] Chr17:40695901 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) |
single nucleotide variant |
Mucopolysaccharidosis [RCV001030811]|Mucopolysaccharidosis, MPS-III-B [RCV001862440] |
Chr17:42543495 [GRCh38] Chr17:40695513 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|not provided |
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001127135]|Mucopolysaccharidosis, MPS-III-B [RCV001434962]|NAGLU-related disorder [RCV003918717] |
Chr17:42543920 [GRCh38] Chr17:40695938 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1291dup (p.Arg431fs) |
duplication |
not provided [RCV001171794] |
Chr17:42543294..42543295 [GRCh38] Chr17:40695312..40695313 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NC_000017.11:g.42535761C>T |
single nucleotide variant |
not provided [RCV001651391] |
Chr17:42535761 [GRCh38] Chr17:40687779 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.1021+174T>C |
single nucleotide variant |
not provided [RCV001707943] |
Chr17:42541380 [GRCh38] Chr17:40693398 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001236855] |
Chr17:42536347..42536379 [GRCh38] Chr17:40688365..40688397 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.587C>T (p.Pro196Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001250668] |
Chr17:42538394 [GRCh38] Chr17:40690412 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002551385]|Mucopolysaccharidosis, MPS-III-B [RCV001037469]|Mucopolysaccharidosis, MPS-III-B [RCV001593198] |
Chr17:42544165 [GRCh38] Chr17:40696183 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV001054291] |
Chr17:42543164..42543165 [GRCh38] Chr17:40695182..40695183 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001206725] |
Chr17:42541086..42541087 [GRCh38] Chr17:40693104..40693105 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001126736]|Mucopolysaccharidosis, MPS-III-B [RCV002556760]|not provided [RCV004694790] |
Chr17:42543795 [GRCh38] Chr17:40695813 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001127137]|Mucopolysaccharidosis, MPS-III-B [RCV001873512] |
Chr17:42544033 [GRCh38] Chr17:40696051 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001056397] |
Chr17:42543436 [GRCh38] Chr17:40695454 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.76G>T (p.Ala26Ser) |
single nucleotide variant |
Intellectual disability [RCV001252577] |
Chr17:42536348 [GRCh38] Chr17:40688366 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.268C>A (p.His90Asn) |
single nucleotide variant |
Intellectual disability [RCV001252581] |
Chr17:42536540 [GRCh38] Chr17:40688558 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) |
single nucleotide variant |
Intellectual disability [RCV001252579]|Mucopolysaccharidosis, MPS-III-B [RCV001879859] |
Chr17:42543849 [GRCh38] Chr17:40695867 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001295061] |
Chr17:42537473 [GRCh38] Chr17:40689491 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.135G>C (p.Ala45=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001278489]|Mucopolysaccharidosis, MPS-III-B [RCV003770422] |
Chr17:42536407 [GRCh38] Chr17:40688425 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001264000] |
Chr17:42538363 [GRCh38] Chr17:40690381 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001264001] |
Chr17:42538436 [GRCh38] Chr17:40690454 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001263999] |
Chr17:42537448 [GRCh38] Chr17:40689466 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001301646] |
Chr17:42537516 [GRCh38] Chr17:40689534 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001305508] |
Chr17:42536376 [GRCh38] Chr17:40688394 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001331107]|not specified [RCV003317478] |
Chr17:42538415 [GRCh38] Chr17:40690433 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001351731]|Mucopolysaccharidosis, MPS-III-B [RCV001831175] |
Chr17:42544089 [GRCh38] Chr17:40696107 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001308591] |
Chr17:42536511 [GRCh38] Chr17:40688529 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001331103] |
Chr17:42536372 [GRCh38] Chr17:40688390 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1794G>A (p.Leu598=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001422137] |
Chr17:42543800 [GRCh38] Chr17:40695818 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.366C>G (p.Thr122=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001397174] |
Chr17:42536638 [GRCh38] Chr17:40688656 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001414975] |
Chr17:42543630 [GRCh38] Chr17:40695648 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.720A>C (p.Pro240=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001423226] |
Chr17:42538711 [GRCh38] Chr17:40690729 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001414486] |
Chr17:42543182 [GRCh38] Chr17:40695200 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.30_31insATCATATT (p.Gly11fs) |
insertion |
not provided [RCV001280777] |
Chr17:42536302..42536303 [GRCh38] Chr17:40688320..40688321 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001412835] |
Chr17:42543350 [GRCh38] Chr17:40695368 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.702C>T (p.Arg234=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001422165] |
Chr17:42538693 [GRCh38] Chr17:40690711 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.417C>T (p.Ser139=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001421210] |
Chr17:42537431 [GRCh38] Chr17:40689449 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001414510] |
Chr17:42543413 [GRCh38] Chr17:40695431 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001396757]|NAGLU-related disorder [RCV003928881] |
Chr17:42543332 [GRCh38] Chr17:40695350 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1068C>T (p.His356=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001391951] |
Chr17:42543074 [GRCh38] Chr17:40695092 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001382928] |
Chr17:42537468 [GRCh38] Chr17:40689486 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.114G>C (p.Arg38=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001397547] |
Chr17:42536386 [GRCh38] Chr17:40688404 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001397550] |
Chr17:42543080 [GRCh38] Chr17:40695098 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001396465] |
Chr17:42543627 [GRCh38] Chr17:40695645 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001338536] |
Chr17:42536319 [GRCh38] Chr17:40688337 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001360964] |
Chr17:42536549 [GRCh38] Chr17:40688567 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001278491]|Mucopolysaccharidosis, MPS-III-B [RCV002537798] |
Chr17:42543448 [GRCh38] Chr17:40695466 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001314839]|not provided [RCV004692476] |
Chr17:42543894 [GRCh38] Chr17:40695912 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1918C>G (p.Gln640Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004639538]|Mucopolysaccharidosis, MPS-III-B [RCV001278492] |
Chr17:42543924 [GRCh38] Chr17:40695942 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.28G>A (p.Val10Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001320853] |
Chr17:42536300 [GRCh38] Chr17:40688318 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.145_147del (p.Ser49del) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001313448] |
Chr17:42536416..42536418 [GRCh38] Chr17:40688434..40688436 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001361952]|Mucopolysaccharidosis, MPS-III-B [RCV001826014]|not provided [RCV004770101] |
Chr17:42543507 [GRCh38] Chr17:40695525 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1980C>A (p.Asn660Lys) |
single nucleotide variant |
not provided [RCV001356528] |
Chr17:42543986 [GRCh38] Chr17:40696004 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003770635]|not provided [RCV001311889] |
Chr17:42538691 [GRCh38] Chr17:40690709 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001370030]|Mucopolysaccharidosis, MPS-III-B [RCV001831295] |
Chr17:42536495 [GRCh38] Chr17:40688513 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001421799] |
Chr17:42543986 [GRCh38] Chr17:40696004 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.678+4A>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001278490]|Mucopolysaccharidosis, MPS-III-B [RCV001880265] |
Chr17:42538489 [GRCh38] Chr17:40690507 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001327591] |
Chr17:42541033 [GRCh38] Chr17:40693051 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001331104] |
Chr17:42543320 [GRCh38] Chr17:40695338 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001331105] |
Chr17:42536286 [GRCh38] Chr17:40688304 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2016C>T (p.Thr672=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001472915] |
Chr17:42544022 [GRCh38] Chr17:40696040 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1107G>T (p.Val369=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001435519] |
Chr17:42543113 [GRCh38] Chr17:40695131 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.679-5T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001424600] |
Chr17:42538665 [GRCh38] Chr17:40690683 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001502459] |
Chr17:42543662 [GRCh38] Chr17:40695680 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.543C>T (p.Ala181=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001469936] |
Chr17:42538350 [GRCh38] Chr17:40690368 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.783T>C (p.Asn261=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001458322] |
Chr17:42540968 [GRCh38] Chr17:40692986 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2103C>T (p.Val701=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001487728] |
Chr17:42544109 [GRCh38] Chr17:40696127 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001441582] |
Chr17:42543296 [GRCh38] Chr17:40695314 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1539T>C (p.Asn513=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001491138] |
Chr17:42543545 [GRCh38] Chr17:40695563 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.732A>G (p.Ala244=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001496531]|not provided [RCV003416364] |
Chr17:42538723 [GRCh38] Chr17:40690741 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.15G>T (p.Ala5=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001506417] |
Chr17:42536287 [GRCh38] Chr17:40688305 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.729T>G (p.Pro243=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001451642] |
Chr17:42538720 [GRCh38] Chr17:40690738 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001515196] |
Chr17:42543356 [GRCh38] Chr17:40695374 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.30G>T (p.Val10=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001452100] |
Chr17:42536302 [GRCh38] Chr17:40688320 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.348C>G (p.Ala116=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001480216] |
Chr17:42536620 [GRCh38] Chr17:40688638 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.153G>C (p.Ser51=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001405380] |
Chr17:42536425 [GRCh38] Chr17:40688443 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.265C>T (p.Leu89=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001417668] |
Chr17:42536537 [GRCh38] Chr17:40688555 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.627C>G (p.Thr209=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001492841] |
Chr17:42538434 [GRCh38] Chr17:40690452 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.750C>G (p.Pro250=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001431248] |
Chr17:42538741 [GRCh38] Chr17:40690759 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.199C>T (p.Leu67=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001486784] |
Chr17:42536471 [GRCh38] Chr17:40688489 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.777G>A (p.Gln259=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001503423] |
Chr17:42540962 [GRCh38] Chr17:40692980 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001491663] |
Chr17:42543554 [GRCh38] Chr17:40695572 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.141C>T (p.Asp47=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001491699] |
Chr17:42536413 [GRCh38] Chr17:40688431 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.153G>T (p.Ser51=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001481140] |
Chr17:42536425 [GRCh38] Chr17:40688443 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001440083] |
Chr17:42543692 [GRCh38] Chr17:40695710 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.108G>T (p.Val36=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001485817] |
Chr17:42536380 [GRCh38] Chr17:40688398 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.136del (p.Ala46fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001383917] |
Chr17:42536407 [GRCh38] Chr17:40688425 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.732A>C (p.Ala244=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001501004] |
Chr17:42538723 [GRCh38] Chr17:40690741 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001463569] |
Chr17:42543890 [GRCh38] Chr17:40695908 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.27G>T (p.Ala9=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001493640] |
Chr17:42536299 [GRCh38] Chr17:40688317 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=) |
single nucleotide variant |
Inborn genetic diseases [RCV004038235]|Mucopolysaccharidosis, MPS-III-B [RCV001426151] |
Chr17:42544130 [GRCh38] Chr17:40696148 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.270C>T (p.His90=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001438652] |
Chr17:42536542 [GRCh38] Chr17:40688560 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1453dup (p.Val485fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001380522] |
Chr17:42543455..42543456 [GRCh38] Chr17:40695473..40695474 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001394278] |
Chr17:42543206 [GRCh38] Chr17:40695224 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001409641] |
Chr17:42543548 [GRCh38] Chr17:40695566 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.957A>T (p.Pro319=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001425375] |
Chr17:42541142 [GRCh38] Chr17:40693160 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.123G>T (p.Gly41=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001404864] |
Chr17:42536395 [GRCh38] Chr17:40688413 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001418639] |
Chr17:42543155 [GRCh38] Chr17:40695173 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001409735] |
Chr17:42543305 [GRCh38] Chr17:40695323 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001446643] |
Chr17:42543314 [GRCh38] Chr17:40695332 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1224C>T (p.His408=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001446439] |
Chr17:42543230 [GRCh38] Chr17:40695248 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.345A>G (p.Pro115=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001410131] |
Chr17:42536617 [GRCh38] Chr17:40688635 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001439797] |
Chr17:42543707 [GRCh38] Chr17:40695725 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.18G>C (p.Val6=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001418123] |
Chr17:42536290 [GRCh38] Chr17:40688308 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001444288] |
Chr17:42543794 [GRCh38] Chr17:40695812 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001425058] |
Chr17:42543650 [GRCh38] Chr17:40695668 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001430653] |
Chr17:42543956 [GRCh38] Chr17:40695974 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-8G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001449460] |
Chr17:42537390 [GRCh38] Chr17:40689408 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1305C>T (p.Asn435=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001444523] |
Chr17:42543311 [GRCh38] Chr17:40695329 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001383909] |
Chr17:42537446 [GRCh38] Chr17:40689464 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.474G>T (p.Ala158=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001408370] |
Chr17:42537488 [GRCh38] Chr17:40689506 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001542299] |
Chr17:42543312 [GRCh38] Chr17:40695330 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001390366] |
Chr17:42538410 [GRCh38] Chr17:40690428 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.255C>T (p.Ala85=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001423993] |
Chr17:42536527 [GRCh38] Chr17:40688545 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.648C>G (p.Pro216=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001434608] |
Chr17:42538455 [GRCh38] Chr17:40690473 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.78C>G (p.Ala26=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001431652] |
Chr17:42536350 [GRCh38] Chr17:40688368 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001436614] |
Chr17:42543834 [GRCh38] Chr17:40695852 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.801T>C (p.Ser267=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001427153] |
Chr17:42540986 [GRCh38] Chr17:40693004 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2220C>T (p.Ala740=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001408729] |
Chr17:42544226 [GRCh38] Chr17:40696244 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.459G>A (p.Glu153=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001393678] |
Chr17:42537473 [GRCh38] Chr17:40689491 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001378698] |
Chr17:42543087 [GRCh38] Chr17:40695105 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001429833] |
Chr17:42543776 [GRCh38] Chr17:40695794 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.984C>T (p.Ala328=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001403016] |
Chr17:42541169 [GRCh38] Chr17:40693187 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.366C>A (p.Thr122=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001394237] |
Chr17:42536638 [GRCh38] Chr17:40688656 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.273C>T (p.Arg91=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001485527] |
Chr17:42536545 [GRCh38] Chr17:40688563 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1347C>T (p.Ser449=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001499055] |
Chr17:42543353 [GRCh38] Chr17:40695371 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-10C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001450502] |
Chr17:42537388 [GRCh38] Chr17:40689406 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001450561] |
Chr17:42543095 [GRCh38] Chr17:40695113 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1605T>C (p.Asp535=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001450785] |
Chr17:42543611 [GRCh38] Chr17:40695629 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.531+76A>G |
single nucleotide variant |
not provided [RCV001541265] |
Chr17:42537621 [GRCh38] Chr17:40689639 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002564261]|not provided [RCV001508802]|not specified [RCV004587172] |
Chr17:42543088 [GRCh38] Chr17:40695106 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001454471] |
Chr17:42543638 [GRCh38] Chr17:40695656 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.679-78G>C |
single nucleotide variant |
not provided [RCV001684379] |
Chr17:42538592 [GRCh38] Chr17:40690610 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.789G>A (p.Thr263=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001458439] |
Chr17:42540974 [GRCh38] Chr17:40692992 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.228G>A (p.Arg76=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001454907] |
Chr17:42536500 [GRCh38] Chr17:40688518 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001499813] |
Chr17:42536548 [GRCh38] Chr17:40688566 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.679-21C>T |
single nucleotide variant |
not provided [RCV001649462] |
Chr17:42538649 [GRCh38] Chr17:40690667 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001451927] |
Chr17:42543338 [GRCh38] Chr17:40695356 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.897G>T (p.Leu299=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001477519] |
Chr17:42541082 [GRCh38] Chr17:40693100 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001470843] |
Chr17:42543728 [GRCh38] Chr17:40695746 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001456526]|Mucopolysaccharidosis, MPS-III-B [RCV001826281] |
Chr17:42543443 [GRCh38] Chr17:40695461 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-184G>C |
single nucleotide variant |
not provided [RCV001654265] |
Chr17:42537214 [GRCh38] Chr17:40689232 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.532-96A>G |
single nucleotide variant |
not provided [RCV001687431] |
Chr17:42538243 [GRCh38] Chr17:40690261 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.147C>T (p.Ser49=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001498477] |
Chr17:42536419 [GRCh38] Chr17:40688437 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.933C>T (p.Ala311=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001501508] |
Chr17:42541118 [GRCh38] Chr17:40693136 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1992G>A (p.Ala664=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001481335] |
Chr17:42543998 [GRCh38] Chr17:40696016 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001390490] |
Chr17:42536338..42536354 [GRCh38] Chr17:40688356..40688372 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.894G>A (p.Glu298=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001495558] |
Chr17:42541079 [GRCh38] Chr17:40693097 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.831C>T (p.Cys277=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001497859] |
Chr17:42541016 [GRCh38] Chr17:40693034 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001425197]|NAGLU-related disorder [RCV003920923] |
Chr17:42543845 [GRCh38] Chr17:40695863 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.198C>T (p.Ser66=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001459548] |
Chr17:42536470 [GRCh38] Chr17:40688488 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1021+15T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001510097] |
Chr17:42541221 [GRCh38] Chr17:40693239 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.69C>G (p.Gly23=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001457620] |
Chr17:42536341 [GRCh38] Chr17:40688359 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.105C>T (p.Leu35=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001454216] |
Chr17:42536377 [GRCh38] Chr17:40688395 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.120G>T (p.Leu40=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001498254] |
Chr17:42536392 [GRCh38] Chr17:40688410 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.340C>T (p.Leu114=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001471355] |
Chr17:42536612 [GRCh38] Chr17:40688630 [GRCh37] Chr17:17q21.2 |
likely benign |
NC_000017.10:g.(?_40690347)_(40690783_?)del |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001381800] |
Chr17:40690347..40690783 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1209C>A (p.Ile403=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001481928] |
Chr17:42543215 [GRCh38] Chr17:40695233 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.909T>C (p.Phe303=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001440425]|not provided [RCV001532301] |
Chr17:42541094 [GRCh38] Chr17:40693112 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001378696]|Mucopolysaccharidosis, MPS-III-B [RCV001831358] |
Chr17:42537471 [GRCh38] Chr17:40689489 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001419568] |
Chr17:42543329 [GRCh38] Chr17:40695347 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001389201] |
Chr17:42543168 [GRCh38] Chr17:40695186 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001440791] |
Chr17:42543239 [GRCh38] Chr17:40695257 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001434560]|not provided [RCV004704554] |
Chr17:42543458 [GRCh38] Chr17:40695476 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001380076] |
Chr17:42536320..42536321 [GRCh38] Chr17:40688338..40688339 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1021+8G>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001443687] |
Chr17:42541214 [GRCh38] Chr17:40693232 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001441061] |
Chr17:42543392 [GRCh38] Chr17:40695410 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.532-1G>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001379037] |
Chr17:42538338 [GRCh38] Chr17:40690356 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001377344]|NAGLU-related disorder [RCV003416297] |
Chr17:42536480..42536481 [GRCh38] Chr17:40688498..40688499 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1890C>G (p.Val630=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001438805] |
Chr17:42543896 [GRCh38] Chr17:40695914 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.219G>A (p.Ala73=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001393642] |
Chr17:42536491 [GRCh38] Chr17:40688509 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001394032]|not provided [RCV001700738] |
Chr17:42543911 [GRCh38] Chr17:40695929 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.735C>T (p.Phe245=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001462277] |
Chr17:42538726 [GRCh38] Chr17:40690744 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-5C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001427084] |
Chr17:42537393 [GRCh38] Chr17:40689411 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.222_223del (p.Val75fs) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV001380662] |
Chr17:42536489..42536490 [GRCh38] Chr17:40688507..40688508 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001428396]|not specified [RCV004699378] |
Chr17:42543130 [GRCh38] Chr17:40695148 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+10C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001482542] |
Chr17:42536665 [GRCh38] Chr17:40688683 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001466909]|not provided [RCV003883656] |
Chr17:42544061 [GRCh38] Chr17:40696079 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.183C>G (p.Gly61=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001417296] |
Chr17:42536455 [GRCh38] Chr17:40688473 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.678+1G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002238562] |
Chr17:42538486 [GRCh38] Chr17:40690504 [GRCh37] Chr17:17q21.2 |
pathogenic |
NC_000017.10:g.(?_40689396)_(40690793_?)del |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003109257] |
Chr17:40689396..40690793 [GRCh37] Chr17:17q21.2 |
pathogenic |
NC_000017.10:g.(?_40688291)_(40729741_?)dup |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV003109258] |
Chr17:40688291..40729741 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NC_000017.10:g.(?_40690337)_(40690793_?)del |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003109259] |
Chr17:40690337..40690793 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.384-10C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001882851]|not provided [RCV001754503] |
Chr17:42537388 [GRCh38] Chr17:40689406 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001885164]|not provided [RCV001784706] |
Chr17:42544051 [GRCh38] Chr17:40696069 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001868420]|not provided [RCV001763492] |
Chr17:42538400 [GRCh38] Chr17:40690418 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1675G>A (p.Asp559Asn) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002227558]|not provided [RCV001782496] |
Chr17:42543681 [GRCh38] Chr17:40695699 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.203GCG[3] (p.Gly71del) |
microsatellite |
not specified [RCV001797874] |
Chr17:42536474..42536476 [GRCh38] Chr17:40688492..40688494 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.765-1G>C |
single nucleotide variant |
not provided [RCV001784704] |
Chr17:42540949 [GRCh38] Chr17:40692967 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1738_1744dup (p.Ala582fs) |
duplication |
Abnormality of metabolism/homeostasis [RCV001814558] |
Chr17:42543743..42543744 [GRCh38] Chr17:40695761..40695762 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.384-3C>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001806383]|Mucopolysaccharidosis, MPS-III-B [RCV001869568]|not provided [RCV003136165] |
Chr17:42537395 [GRCh38] Chr17:40689413 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001950013] |
Chr17:42543898 [GRCh38] Chr17:40695916 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.77C>T (p.Ala26Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002021444] |
Chr17:42536349 [GRCh38] Chr17:40688367 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1643C>T (p.Pro548Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001930105] |
Chr17:42543649 [GRCh38] Chr17:40695667 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.176A>T (p.Lys59Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001915561] |
Chr17:42536448 [GRCh38] Chr17:40688466 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002025052] |
Chr17:42537432 [GRCh38] Chr17:40689450 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001971750] |
Chr17:42538433 [GRCh38] Chr17:40690451 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1789G>C (p.Val597Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002044724] |
Chr17:42543795 [GRCh38] Chr17:40695813 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001908116] |
Chr17:42543335 [GRCh38] Chr17:40695353 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002025306] |
Chr17:42541009 [GRCh38] Chr17:40693027 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002002717] |
Chr17:42544130 [GRCh38] Chr17:40696148 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001970854] |
Chr17:42541110 [GRCh38] Chr17:40693128 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001896670] |
Chr17:42543138 [GRCh38] Chr17:40695156 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001988254] |
Chr17:42537451 [GRCh38] Chr17:40689469 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.713del (p.Met238fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001895807] |
Chr17:42538704 [GRCh38] Chr17:40690722 [GRCh37] Chr17:17q21.2 |
pathogenic |
NC_000017.10:g.(?_40688291)_(40690793_?)dup |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001871488] |
Chr17:40688291..40690793 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002042267] |
Chr17:42538700 [GRCh38] Chr17:40690718 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.222C>G (p.Arg74=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001947169] |
Chr17:42536494 [GRCh38] Chr17:40688512 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002022951] |
Chr17:42543607 [GRCh38] Chr17:40695625 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001912744] |
Chr17:42538728 [GRCh38] Chr17:40690746 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001983523] |
Chr17:42543190 [GRCh38] Chr17:40695208 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001891611] |
Chr17:42543135 [GRCh38] Chr17:40695153 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.682C>T (p.Arg228Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002579529]|Mucopolysaccharidosis, MPS-III-B [RCV002021965] |
Chr17:42538673 [GRCh38] Chr17:40690691 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2V [RCV002221635]|Mucopolysaccharidosis, MPS-III-B [RCV001861029] |
Chr17:42537544 [GRCh38] Chr17:40689562 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001985419] |
Chr17:42543515 [GRCh38] Chr17:40695533 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.410_413del (p.Thr137fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001844476] |
Chr17:42537421..42537424 [GRCh38] Chr17:40689439..40689442 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001984195] |
Chr17:42536583 [GRCh38] Chr17:40688601 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.379A>C (p.Asn127His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001967509] |
Chr17:42536651 [GRCh38] Chr17:40688669 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001894535] |
Chr17:42536448 [GRCh38] Chr17:40688466 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001890960] |
Chr17:42538674 [GRCh38] Chr17:40690692 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002005475] |
Chr17:42543283 [GRCh38] Chr17:40695301 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001969925] |
Chr17:42537517 [GRCh38] Chr17:40689535 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001969946] |
Chr17:42543565 [GRCh38] Chr17:40695583 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001908440] |
Chr17:42543112 [GRCh38] Chr17:40695130 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001914104] |
Chr17:42543688 [GRCh38] Chr17:40695706 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.115_122del (p.Leu39fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001946248] |
Chr17:42536385..42536392 [GRCh38] Chr17:40688403..40688410 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001928664] |
Chr17:42543184 [GRCh38] Chr17:40695202 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.326G>A (p.Arg109His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001895477] |
Chr17:42536598 [GRCh38] Chr17:40688616 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001913835] |
Chr17:42543576 [GRCh38] Chr17:40695594 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002043424] |
Chr17:42541060 [GRCh38] Chr17:40693078 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1815_1821dup (p.Glu608fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV002007460] |
Chr17:42543819..42543820 [GRCh38] Chr17:40695837..40695838 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease axonal type 2V [RCV003319997]|Mucopolysaccharidosis, MPS-III-B [RCV001985079] |
Chr17:42543310 [GRCh38] Chr17:40695328 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.2053A>G (p.Ser685Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001837210] |
Chr17:42544059 [GRCh38] Chr17:40696077 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1021+1G>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001825122] |
Chr17:42541207 [GRCh38] Chr17:40693225 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002543298]|not specified [RCV001844477] |
Chr17:42538748 [GRCh38] Chr17:40690766 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002005580] |
Chr17:42543491 [GRCh38] Chr17:40695509 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001986356] |
Chr17:42538694 [GRCh38] Chr17:40690712 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001985221] |
Chr17:42544021 [GRCh38] Chr17:40696039 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001893693] |
Chr17:42536616 [GRCh38] Chr17:40688634 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1682T>G (p.Leu561Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002022742] |
Chr17:42543688 [GRCh38] Chr17:40695706 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001948572] |
Chr17:42536349 [GRCh38] Chr17:40688367 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002021355] |
Chr17:42543919 [GRCh38] Chr17:40695937 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.610A>G (p.Met204Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001965404] |
Chr17:42538417 [GRCh38] Chr17:40690435 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.441G>A (p.Trp147Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001967204] |
Chr17:42537455 [GRCh38] Chr17:40689473 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002037580]|not specified [RCV004690144] |
Chr17:42541126 [GRCh38] Chr17:40693144 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001962390] |
Chr17:42538678..42538683 [GRCh38] Chr17:40690696..40690701 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.383+5C>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001887214] |
Chr17:42536660 [GRCh38] Chr17:40688678 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001906752] |
Chr17:42537401 [GRCh38] Chr17:40689419 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001962851] |
Chr17:42543469 [GRCh38] Chr17:40695487 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2222G>A (p.Gly741Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001944646] |
Chr17:42544228 [GRCh38] Chr17:40696246 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.59dup (p.Ala21fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001922252] |
Chr17:42536326..42536327 [GRCh38] Chr17:40688344..40688345 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.532-1G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002001268] |
Chr17:42538338 [GRCh38] Chr17:40690356 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.252_265del (p.Ala86fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001939409] |
Chr17:42536521..42536534 [GRCh38] Chr17:40688539..40688552 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001944084] |
Chr17:42537539 [GRCh38] Chr17:40689557 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001924339] |
Chr17:42541131 [GRCh38] Chr17:40693149 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.222_247del (p.Val75fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001953475] |
Chr17:42536491..42536516 [GRCh38] Chr17:40688509..40688534 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001888685] |
Chr17:42543496 [GRCh38] Chr17:40695514 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1896G>A (p.Glu632=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001888717] |
Chr17:42543902 [GRCh38] Chr17:40695920 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.192del (p.Tyr65fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001963100] |
Chr17:42536463 [GRCh38] Chr17:40688481 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2191T>C (p.Phe731Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001888772] |
Chr17:42544197 [GRCh38] Chr17:40696215 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001904871] |
Chr17:42543178..42543179 [GRCh38] Chr17:40695196..40695197 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001888331] |
Chr17:42543779 [GRCh38] Chr17:40695797 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.648del (p.Ser217fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV002000089] |
Chr17:42538450 [GRCh38] Chr17:40690468 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001982591] |
Chr17:42544038 [GRCh38] Chr17:40696056 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.820del (p.Ser274fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001885892] |
Chr17:42541004 [GRCh38] Chr17:40693022 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001992328] |
Chr17:42543828 [GRCh38] Chr17:40695846 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met) |
indel |
Mucopolysaccharidosis, MPS-III-B [RCV001993707] |
Chr17:42537488..42537489 [GRCh38] Chr17:40689506..40689507 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002016191] |
Chr17:42543936 [GRCh38] Chr17:40695954 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.383+5C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001916570] |
Chr17:42536660 [GRCh38] Chr17:40688678 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001919448] |
Chr17:42543789 [GRCh38] Chr17:40695807 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001994441] |
Chr17:42536486 [GRCh38] Chr17:40688504 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001955994]|not specified [RCV004526886] |
Chr17:42543859 [GRCh38] Chr17:40695877 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001937130] |
Chr17:42543467 [GRCh38] Chr17:40695485 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002050864] |
Chr17:42543136 [GRCh38] Chr17:40695154 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002012023] |
Chr17:42538736 [GRCh38] Chr17:40690754 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001915609] |
Chr17:42536534 [GRCh38] Chr17:40688552 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001881795] |
Chr17:42538354 [GRCh38] Chr17:40690372 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.640dup (p.Leu214fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001876710] |
Chr17:42538442..42538443 [GRCh38] Chr17:40690460..40690461 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.508G>A (p.Gly170Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001935470] |
Chr17:42537522 [GRCh38] Chr17:40689540 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001899750] |
Chr17:42543459 [GRCh38] Chr17:40695477 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002011022] |
Chr17:42543148 [GRCh38] Chr17:40695166 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.953_957del (p.Gln318fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001951172] |
Chr17:42541138..42541142 [GRCh38] Chr17:40693156..40693160 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1460dup (p.His487fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001934592] |
Chr17:42543465..42543466 [GRCh38] Chr17:40695483..40695484 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.317_323del (p.Ser106fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001993306] |
Chr17:42536586..42536592 [GRCh38] Chr17:40688604..40688610 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001921559] |
Chr17:42536460 [GRCh38] Chr17:40688478 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.32G>T (p.Gly11Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001993097] |
Chr17:42536304 [GRCh38] Chr17:40688322 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2004C>T (p.Ala668=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001951274] |
Chr17:42544010 [GRCh38] Chr17:40696028 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001990693]|not provided [RCV003490982] |
Chr17:42543034 [GRCh38] Chr17:40695052 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002012718] |
Chr17:42544082 [GRCh38] Chr17:40696100 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001921053] |
Chr17:42536549 [GRCh38] Chr17:40688567 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1336del (p.Glu446fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001972426] |
Chr17:42543342 [GRCh38] Chr17:40695360 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002051340] |
Chr17:42543954 [GRCh38] Chr17:40695972 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002049012] |
Chr17:42536484 [GRCh38] Chr17:40688502 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1660C>T (p.Pro554Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001917729] |
Chr17:42543666 [GRCh38] Chr17:40695684 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NC_000017.10:g.(?_40688281)_(40693234_?)del |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV001975237] |
Chr17:40688281..40693234 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002561369]|Mucopolysaccharidosis, MPS-III-B [RCV001931226] |
Chr17:42536475 [GRCh38] Chr17:40688493 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001919272]|not provided [RCV002221691]|not specified [RCV003317549] |
Chr17:42543447 [GRCh38] Chr17:40695465 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.193T>C (p.Tyr65His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001976725] |
Chr17:42536465 [GRCh38] Chr17:40688483 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001922586] |
Chr17:42541075 [GRCh38] Chr17:40693093 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001996513] |
Chr17:42544074 [GRCh38] Chr17:40696092 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001906421] |
Chr17:42543750 [GRCh38] Chr17:40695768 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001880459] |
Chr17:42543864 [GRCh38] Chr17:40695882 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1474G>A (p.Ala492Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002561385]|Mucopolysaccharidosis, MPS-III-B [RCV001936171] |
Chr17:42543480 [GRCh38] Chr17:40695498 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001937969] |
Chr17:42543716 [GRCh38] Chr17:40695734 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1192C>A (p.Gln398Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002051116] |
Chr17:42543198 [GRCh38] Chr17:40695216 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.647C>G (p.Pro216Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001936315] |
Chr17:42538454 [GRCh38] Chr17:40690472 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001900931] |
Chr17:42544137 [GRCh38] Chr17:40696155 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.8C>T (p.Ala3Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001937343] |
Chr17:42536280 [GRCh38] Chr17:40688298 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001883427] |
Chr17:42543291 [GRCh38] Chr17:40695309 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001988942] |
Chr17:42543784 [GRCh38] Chr17:40695802 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV002030058] |
Chr17:42544175..42544176 [GRCh38] Chr17:40696193..40696194 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002032121] |
Chr17:42540972 [GRCh38] Chr17:40692990 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001974674] |
Chr17:42544115 [GRCh38] Chr17:40696133 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001951137] |
Chr17:42536580 [GRCh38] Chr17:40688598 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.60C>T (p.Gly20=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001898662] |
Chr17:42536332 [GRCh38] Chr17:40688350 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002547945]|Mucopolysaccharidosis, MPS-III-B [RCV001878270] |
Chr17:42538424 [GRCh38] Chr17:40690442 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002011260] |
Chr17:42544170 [GRCh38] Chr17:40696188 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001934610] |
Chr17:42544091 [GRCh38] Chr17:40696109 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002014991] |
Chr17:42538383 [GRCh38] Chr17:40690401 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001897479] |
Chr17:42538755 [GRCh38] Chr17:40690773 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001959575] |
Chr17:42537469 [GRCh38] Chr17:40689487 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001939506] |
Chr17:42538414 [GRCh38] Chr17:40690432 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001975040] |
Chr17:42536275 [GRCh38] Chr17:40688293 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1880C>T (p.Ala627Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001978319] |
Chr17:42543886 [GRCh38] Chr17:40695904 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002017549] |
Chr17:42543705 [GRCh38] Chr17:40695723 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003382733]|Mucopolysaccharidosis, MPS-III-B [RCV001957451] |
Chr17:42536279 [GRCh38] Chr17:40688297 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001978497]|not specified [RCV004770352] |
Chr17:42536375 [GRCh38] Chr17:40688393 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.642dup (p.Pro215fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001953487] |
Chr17:42538448..42538449 [GRCh38] Chr17:40690466..40690467 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001883851]|not specified [RCV004587234] |
Chr17:42537406 [GRCh38] Chr17:40689424 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001991581] |
Chr17:42543537 [GRCh38] Chr17:40695555 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1661C>T (p.Pro554Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004651767]|Mucopolysaccharidosis, MPS-III-B [RCV001900588] |
Chr17:42543667 [GRCh38] Chr17:40695685 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2221G>A (p.Gly741Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002036329] |
Chr17:42544227 [GRCh38] Chr17:40696245 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001979726] |
Chr17:42536298 [GRCh38] Chr17:40688316 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002017278] |
Chr17:42536604 [GRCh38] Chr17:40688622 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002018528] |
Chr17:42541111 [GRCh38] Chr17:40693129 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001925056] |
Chr17:42538411 [GRCh38] Chr17:40690429 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1786G>T (p.Gly596Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001925992] |
Chr17:42543792 [GRCh38] Chr17:40695810 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001877206] |
Chr17:42541044 [GRCh38] Chr17:40693062 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001932143] |
Chr17:42543973 [GRCh38] Chr17:40695991 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001993530] |
Chr17:42544215 [GRCh38] Chr17:40696233 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001897232] |
Chr17:42543411 [GRCh38] Chr17:40695429 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002015294] |
Chr17:42541125 [GRCh38] Chr17:40693143 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002046180] |
Chr17:42544098 [GRCh38] Chr17:40696116 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2201A>G (p.Tyr734Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001934186] |
Chr17:42544207 [GRCh38] Chr17:40696225 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001936239] |
Chr17:42536381 [GRCh38] Chr17:40688399 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001976885] |
Chr17:42543324 [GRCh38] Chr17:40695342 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001903169] |
Chr17:42543709 [GRCh38] Chr17:40695727 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.623_626dup (p.Trp210fs) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV001951307] |
Chr17:42538428..42538429 [GRCh38] Chr17:40690446..40690447 [GRCh37] Chr17:17q21.2 |
pathogenic |
NC_000017.10:g.(?_40690337)_(40690793_?)dup |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV001989374] |
Chr17:40690337..40690793 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV001917246] |
Chr17:42536473..42536474 [GRCh38] Chr17:40688491..40688492 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV001978320]|not specified [RCV004526169] |
Chr17:42543816 [GRCh38] Chr17:40695834 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.843G>C (p.Leu281=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002075490] |
Chr17:42541028 [GRCh38] Chr17:40693046 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.999C>T (p.Ala333=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002169908] |
Chr17:42541184 [GRCh38] Chr17:40693202 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.261G>C (p.Ala87=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002085694] |
Chr17:42536533 [GRCh38] Chr17:40688551 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.642G>A (p.Leu214=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002205848] |
Chr17:42538449 [GRCh38] Chr17:40690467 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1021+15T>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002168790] |
Chr17:42541221 [GRCh38] Chr17:40693239 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1017T>C (p.Thr339=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002085778] |
Chr17:42541202 [GRCh38] Chr17:40693220 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.180G>C (p.Pro60=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002087531] |
Chr17:42536452 [GRCh38] Chr17:40688470 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.231G>C (p.Val77=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002168985] |
Chr17:42536503 [GRCh38] Chr17:40688521 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.531+9C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002188040] |
Chr17:42537554 [GRCh38] Chr17:40689572 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.531+10C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002111301] |
Chr17:42537555 [GRCh38] Chr17:40689573 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.489C>T (p.Asn163=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002165603] |
Chr17:42537503 [GRCh38] Chr17:40689521 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.888G>A (p.Leu296=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002191660] |
Chr17:42541073 [GRCh38] Chr17:40693091 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.657C>T (p.His219=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002206665] |
Chr17:42538464 [GRCh38] Chr17:40690482 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1890C>T (p.Val630=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002207111] |
Chr17:42543896 [GRCh38] Chr17:40695914 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.765-4C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002112323] |
Chr17:42540946 [GRCh38] Chr17:40692964 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1797C>T (p.Ala599=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002192569] |
Chr17:42543803 [GRCh38] Chr17:40695821 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.679-15C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002108566] |
Chr17:42538655 [GRCh38] Chr17:40690673 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+12C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002090607] |
Chr17:42538767 [GRCh38] Chr17:40690785 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1500T>C (p.Ser500=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002187000] |
Chr17:42543506 [GRCh38] Chr17:40695524 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1257C>T (p.Ala419=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002190790] |
Chr17:42543263 [GRCh38] Chr17:40695281 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1022-20C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002105775] |
Chr17:42543008 [GRCh38] Chr17:40695026 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1746C>T (p.Ala582=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002105865] |
Chr17:42543752 [GRCh38] Chr17:40695770 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1779G>A (p.Arg593=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002207649] |
Chr17:42543785 [GRCh38] Chr17:40695803 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.807C>T (p.Gly269=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002108106] |
Chr17:42540992 [GRCh38] Chr17:40693010 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.87G>A (p.Ala29=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002209492] |
Chr17:42536359 [GRCh38] Chr17:40688377 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1269G>A (p.Val423=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002167088] |
Chr17:42543275 [GRCh38] Chr17:40695293 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+11G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002147233] |
Chr17:42536666 [GRCh38] Chr17:40688684 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1022-10C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002107712] |
Chr17:42543018 [GRCh38] Chr17:40695036 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.201G>A (p.Leu67=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002144859] |
Chr17:42536473 [GRCh38] Chr17:40688491 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.147C>G (p.Ser49=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002209956] |
Chr17:42536419 [GRCh38] Chr17:40688437 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2157G>T (p.Pro719=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002185742] |
Chr17:42544163 [GRCh38] Chr17:40696181 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.258C>G (p.Ala86=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002086226] |
Chr17:42536530 [GRCh38] Chr17:40688548 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.354G>C (p.Pro118=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002188812] |
Chr17:42536626 [GRCh38] Chr17:40688644 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.531+12C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002148623] |
Chr17:42537557 [GRCh38] Chr17:40689575 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.267G>A (p.Leu89=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002196097] |
Chr17:42536539 [GRCh38] Chr17:40688557 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.768G>A (p.Val256=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002165398] |
Chr17:42540953 [GRCh38] Chr17:40692971 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-16A>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002117039] |
Chr17:42537382 [GRCh38] Chr17:40689400 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1287T>G (p.Ala429=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002195020] |
Chr17:42543293 [GRCh38] Chr17:40695311 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.315C>G (p.Gly105=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002215373] |
Chr17:42536587 [GRCh38] Chr17:40688605 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1771C>T (p.Leu591=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002104362] |
Chr17:42543777 [GRCh38] Chr17:40695795 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2043G>T (p.Ala681=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002165590] |
Chr17:42544049 [GRCh38] Chr17:40696067 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1680G>C (p.Leu560=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002170307] |
Chr17:42543686 [GRCh38] Chr17:40695704 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.138C>A (p.Ala46=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002194798] |
Chr17:42536410 [GRCh38] Chr17:40688428 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+15A>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002211924] |
Chr17:42538770 [GRCh38] Chr17:40690788 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.756T>G (p.Ala252=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002088122] |
Chr17:42538747 [GRCh38] Chr17:40690765 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.177G>A (p.Lys59=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002132613] |
Chr17:42536449 [GRCh38] Chr17:40688467 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.321G>A (p.Gln107=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002076950] |
Chr17:42536593 [GRCh38] Chr17:40688611 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+19C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002131017] |
Chr17:42538774 [GRCh38] Chr17:40690792 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.54C>G (p.Ala18=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002134709] |
Chr17:42536326 [GRCh38] Chr17:40688344 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1047C>A (p.Leu349=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002194075] |
Chr17:42543053 [GRCh38] Chr17:40695071 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.115C>T (p.Leu39=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002149751] |
Chr17:42536387 [GRCh38] Chr17:40688405 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.90G>A (p.Ala30=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002133150] |
Chr17:42536362 [GRCh38] Chr17:40688380 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1996T>C (p.Leu666=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002185504] |
Chr17:42544002 [GRCh38] Chr17:40696020 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1806G>A (p.Leu602=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002080843] |
Chr17:42543812 [GRCh38] Chr17:40695830 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.99G>A (p.Arg33=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002073871] |
Chr17:42536371 [GRCh38] Chr17:40688389 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1089C>G (p.Pro363=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002210863] |
Chr17:42543095 [GRCh38] Chr17:40695113 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2013C>T (p.Tyr671=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002107365] |
Chr17:42544019 [GRCh38] Chr17:40696037 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.132C>G (p.Pro44=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002097272] |
Chr17:42536404 [GRCh38] Chr17:40688422 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.411G>A (p.Thr137=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002117177] |
Chr17:42537425 [GRCh38] Chr17:40689443 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1533C>T (p.Gly511=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002089160] |
Chr17:42543539 [GRCh38] Chr17:40695557 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1674C>T (p.Tyr558=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002149249] |
Chr17:42543680 [GRCh38] Chr17:40695698 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+19C>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002112881] |
Chr17:42538774 [GRCh38] Chr17:40690792 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.9G>A (p.Ala3=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002205694] |
Chr17:42536281 [GRCh38] Chr17:40688299 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.294C>T (p.Gly98=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002133900] |
Chr17:42536566 [GRCh38] Chr17:40688584 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.792G>A (p.Lys264=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002166299] |
Chr17:42540977 [GRCh38] Chr17:40692995 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1023G>T (p.Val341=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002088701] |
Chr17:42543029 [GRCh38] Chr17:40695047 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.126A>G (p.Pro42=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002079725] |
Chr17:42536398 [GRCh38] Chr17:40688416 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.339A>T (p.Pro113=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002151998] |
Chr17:42536611 [GRCh38] Chr17:40688629 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.741G>C (p.Gly247=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002095005] |
Chr17:42538732 [GRCh38] Chr17:40690750 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2218G>C (p.Ala740Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002127141] |
Chr17:42544224 [GRCh38] Chr17:40696242 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.720A>T (p.Pro240=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002194547] |
Chr17:42538711 [GRCh38] Chr17:40690729 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1881A>G (p.Ala627=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002138905] |
Chr17:42543887 [GRCh38] Chr17:40695905 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.168G>C (p.Leu56=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002201126] |
Chr17:42536440 [GRCh38] Chr17:40688458 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.282C>G (p.Arg94=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002101726] |
Chr17:42536554 [GRCh38] Chr17:40688572 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2106C>T (p.Phe702=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002159465] |
Chr17:42544112 [GRCh38] Chr17:40696130 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.144C>T (p.Phe48=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002155574] |
Chr17:42536416 [GRCh38] Chr17:40688434 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.381C>T (p.Asn127=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002154663] |
Chr17:42536653 [GRCh38] Chr17:40688671 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1110G>A (p.Leu370=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002156683] |
Chr17:42543116 [GRCh38] Chr17:40695134 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1965C>A (p.Ile655=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002160391] |
Chr17:42543971 [GRCh38] Chr17:40695989 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1371C>T (p.Leu457=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002136265] |
Chr17:42543377 [GRCh38] Chr17:40695395 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.51G>A (p.Gly17=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002160575] |
Chr17:42536323 [GRCh38] Chr17:40688341 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1311C>T (p.Thr437=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002156810] |
Chr17:42543317 [GRCh38] Chr17:40695335 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2022C>T (p.Arg674=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002219601] |
Chr17:42544028 [GRCh38] Chr17:40696046 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.342G>A (p.Leu114=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002178147] |
Chr17:42536614 [GRCh38] Chr17:40688632 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-8G>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002199119] |
Chr17:42537390 [GRCh38] Chr17:40689408 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.645C>T (p.Pro215=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002218211] |
Chr17:42538452 [GRCh38] Chr17:40690470 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.618C>T (p.Asn206=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002140938] |
Chr17:42538425 [GRCh38] Chr17:40690443 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.532-11T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002197736] |
Chr17:42538328 [GRCh38] Chr17:40690346 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1512C>T (p.Cys504=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002083425] |
Chr17:42543518 [GRCh38] Chr17:40695536 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2169T>C (p.Thr723=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002218939] |
Chr17:42544175 [GRCh38] Chr17:40696193 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-4G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002163768] |
Chr17:42537394 [GRCh38] Chr17:40689412 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+10C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002163794] |
Chr17:42536665 [GRCh38] Chr17:40688683 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.678+8G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002154900] |
Chr17:42538493 [GRCh38] Chr17:40690511 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.57G>A (p.Gly19=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002160815] |
Chr17:42536329 [GRCh38] Chr17:40688347 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1368C>T (p.Ser456=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002156897] |
Chr17:42543374 [GRCh38] Chr17:40695392 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.619C>T (p.Leu207=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002164331] |
Chr17:42538426 [GRCh38] Chr17:40690444 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2196C>T (p.Leu732=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002099623] |
Chr17:42544202 [GRCh38] Chr17:40696220 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+20C>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002140458] |
Chr17:42536675 [GRCh38] Chr17:40688693 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1437C>A (p.Ala479=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002184737] |
Chr17:42543443 [GRCh38] Chr17:40695461 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.288C>T (p.Phe96=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002098430] |
Chr17:42536560 [GRCh38] Chr17:40688578 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+11G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002103845] |
Chr17:42538766 [GRCh38] Chr17:40690784 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.111C>G (p.Ala37=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002183020] |
Chr17:42536383 [GRCh38] Chr17:40688401 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.387C>T (p.Tyr129=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002104069] |
Chr17:42537401 [GRCh38] Chr17:40689419 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.987A>G (p.Ala329=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002198949] |
Chr17:42541172 [GRCh38] Chr17:40693190 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+8T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002181624] |
Chr17:42538763 [GRCh38] Chr17:40690781 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.180G>A (p.Pro60=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002138602] |
Chr17:42536452 [GRCh38] Chr17:40688470 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1022-8G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002180684] |
Chr17:42543020 [GRCh38] Chr17:40695038 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1489C>T (p.Leu497=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002161492] |
Chr17:42543495 [GRCh38] Chr17:40695513 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.765-16T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002197905] |
Chr17:42540934 [GRCh38] Chr17:40692952 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1188C>T (p.Ser396=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002203209] |
Chr17:42543194 [GRCh38] Chr17:40695212 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1022-4A>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002183169] |
Chr17:42543024 [GRCh38] Chr17:40695042 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.327C>T (p.Arg109=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002158066] |
Chr17:42536599 [GRCh38] Chr17:40688617 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1767C>T (p.Ala589=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002183664] |
Chr17:42543773 [GRCh38] Chr17:40695791 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1671C>A (p.Arg557=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002136137] |
Chr17:42543677 [GRCh38] Chr17:40695695 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.542C>A (p.Ala181Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002098819] |
Chr17:42538349 [GRCh38] Chr17:40690367 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1044G>T (p.Leu348=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002156676] |
Chr17:42543050 [GRCh38] Chr17:40695068 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003115546] |
Chr17:42543279 [GRCh38] Chr17:40695297 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003115663]|not provided [RCV004763594] |
Chr17:42537432 [GRCh38] Chr17:40689450 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1182del (p.Ala395fs) |
deletion |
not provided [RCV003130972] |
Chr17:42543188 [GRCh38] Chr17:40695206 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.229_236del (p.Val77fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV002271923] |
Chr17:42536497..42536504 [GRCh38] Chr17:40688515..40688522 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.2038_2050del (p.Glu680fs) |
deletion |
not provided [RCV003130974] |
Chr17:42544042..42544054 [GRCh38] Chr17:40696060..40696072 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.2128C>G (p.Leu710Val) |
single nucleotide variant |
not provided [RCV002261568] |
Chr17:42544134 [GRCh38] Chr17:40696152 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.381C>G (p.Asn127Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002291493] |
Chr17:42536653 [GRCh38] Chr17:40688671 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.111_120delinsAGCC (p.Arg38_Leu40delinsAla) |
indel |
Mucopolysaccharidosis, MPS-III-B [RCV002274859] |
Chr17:42536383..42536392 [GRCh38] Chr17:40688401..40688410 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003774977]|not provided [RCV002292954] |
Chr17:42543620 [GRCh38] Chr17:40695638 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.739G>T (p.Gly247Trp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002291517] |
Chr17:42538730 [GRCh38] Chr17:40690748 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.814_820dup (p.Ser274Ter) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV002291518] |
Chr17:42540996..42540997 [GRCh38] Chr17:40693014..40693015 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1181C>T (p.Thr394Ile) |
single nucleotide variant |
not provided [RCV002466994] |
Chr17:42543187 [GRCh38] Chr17:40695205 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002295261] |
Chr17:42541136 [GRCh38] Chr17:40693154 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002299463] |
Chr17:42543490 [GRCh38] Chr17:40695508 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.82_87delinsTGTATAAGAGACA (p.Glu28fs) |
indel |
Mucopolysaccharidosis, MPS-III-B [RCV002308200] |
Chr17:42536354..42536359 [GRCh38] Chr17:40688372..40688377 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002295625] |
Chr17:42543946 [GRCh38] Chr17:40695964 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.28G>C (p.Val10Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002295663] |
Chr17:42536300 [GRCh38] Chr17:40688318 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.431G>A (p.Trp144Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002306795] |
Chr17:42537445 [GRCh38] Chr17:40689463 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002299294] |
Chr17:42536586 [GRCh38] Chr17:40688604 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002301515] |
Chr17:42541156 [GRCh38] Chr17:40693174 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002303367] |
Chr17:42541136 [GRCh38] Chr17:40693154 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002304419] |
Chr17:42536364 [GRCh38] Chr17:40688382 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002307903]|Mucopolysaccharidosis, MPS-III-B [RCV003775027] |
Chr17:42538483 [GRCh38] Chr17:40690501 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.397del (p.Gln133fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV002308304] |
Chr17:42537410 [GRCh38] Chr17:40689428 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.949A>G (p.Met317Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002300288] |
Chr17:42541134 [GRCh38] Chr17:40693152 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.234C>T (p.Arg78=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002971503] |
Chr17:42536506 [GRCh38] Chr17:40688524 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+5G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002726642] |
Chr17:42538760 [GRCh38] Chr17:40690778 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002615528] |
Chr17:42543415 [GRCh38] Chr17:40695433 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002776382] |
Chr17:42543921 [GRCh38] Chr17:40695939 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.966A>C (p.Ser322=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002862718] |
Chr17:42541151 [GRCh38] Chr17:40693169 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2225C>G (p.Ser742Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002731918] |
Chr17:42544231 [GRCh38] Chr17:40696249 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003013306] |
Chr17:42538348 [GRCh38] Chr17:40690366 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002731128] |
Chr17:42538709 [GRCh38] Chr17:40690727 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002613998] |
Chr17:42540957 [GRCh38] Chr17:40692975 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1942T>C (p.Leu648=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002993634] |
Chr17:42543948 [GRCh38] Chr17:40695966 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.26C>T (p.Ala9Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003076111] |
Chr17:42536298 [GRCh38] Chr17:40688316 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003076976]|not specified [RCV004526223] |
Chr17:42538450 [GRCh38] Chr17:40690468 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1959C>T (p.Gly653=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002995281] |
Chr17:42543965 [GRCh38] Chr17:40695983 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1524C>T (p.Ala508=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002903429] |
Chr17:42543530 [GRCh38] Chr17:40695548 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002971984] |
Chr17:42543334 [GRCh38] Chr17:40695352 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.710_714dup (p.Thr239delinsAlaTer) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV002839411] |
Chr17:42538699..42538700 [GRCh38] Chr17:40690717..40690718 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002843412] |
Chr17:42536303 [GRCh38] Chr17:40688321 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002837781] |
Chr17:42541003 [GRCh38] Chr17:40693021 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1022-10C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002991520] |
Chr17:42543018 [GRCh38] Chr17:40695036 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002995586] |
Chr17:42543544 [GRCh38] Chr17:40695562 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003076910] |
Chr17:42543894 [GRCh38] Chr17:40695912 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.24G>T (p.Ala8=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002909058] |
Chr17:42536296 [GRCh38] Chr17:40688314 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003076693] |
Chr17:42536277 [GRCh38] Chr17:40688295 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002843733] |
Chr17:42544065 [GRCh38] Chr17:40696083 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003016589] |
Chr17:42538754 [GRCh38] Chr17:40690772 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.490C>T (p.Leu164=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003014522] |
Chr17:42537504 [GRCh38] Chr17:40689522 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003013140] |
Chr17:42543483 [GRCh38] Chr17:40695501 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.384-15T>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002815257] |
Chr17:42537383 [GRCh38] Chr17:40689401 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.1929C>A (p.Arg643=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002775326] |
Chr17:42543935 [GRCh38] Chr17:40695953 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1978A>G (p.Asn660Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002512509] |
Chr17:42543984 [GRCh38] Chr17:40696002 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.132C>A (p.Pro44=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003014451] |
Chr17:42536404 [GRCh38] Chr17:40688422 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.507C>T (p.Ser169=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002751421] |
Chr17:42537521 [GRCh38] Chr17:40689539 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1857C>T (p.Gly619=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003013236] |
Chr17:42543863 [GRCh38] Chr17:40695881 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002837639] |
Chr17:42543047 [GRCh38] Chr17:40695065 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1179C>T (p.Arg393=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002815607] |
Chr17:42543185 [GRCh38] Chr17:40695203 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003012434] |
Chr17:42543063 [GRCh38] Chr17:40695081 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2044C>T (p.Leu682=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002755055] |
Chr17:42544050 [GRCh38] Chr17:40696068 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.882C>T (p.Leu294=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002727075] |
Chr17:42541067 [GRCh38] Chr17:40693085 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002970736] |
Chr17:42536469 [GRCh38] Chr17:40688487 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002971280] |
Chr17:42543294 [GRCh38] Chr17:40695312 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002686272] |
Chr17:42544059 [GRCh38] Chr17:40696077 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003033877] |
Chr17:42543909 [GRCh38] Chr17:40695927 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.934G>C (p.Asp312His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002862745] |
Chr17:42541119 [GRCh38] Chr17:40693137 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1711C>T (p.Leu571=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002842521] |
Chr17:42543717 [GRCh38] Chr17:40695735 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003076683] |
Chr17:42544131 [GRCh38] Chr17:40696149 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.990C>T (p.Ala330=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002750272] |
Chr17:42541175 [GRCh38] Chr17:40693193 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1190T>G (p.Phe397Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002864263] |
Chr17:42543196 [GRCh38] Chr17:40695214 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002908394] |
Chr17:42536462 [GRCh38] Chr17:40688480 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003016656] |
Chr17:42543528 [GRCh38] Chr17:40695546 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.383+14G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002880341] |
Chr17:42536669 [GRCh38] Chr17:40688687 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002843129] |
Chr17:42543205 [GRCh38] Chr17:40695223 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.744T>C (p.His248=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002880401] |
Chr17:42538735 [GRCh38] Chr17:40690753 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.81G>T (p.Arg27=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002842564] |
Chr17:42536353 [GRCh38] Chr17:40688371 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV003034459] |
Chr17:42544142..42544143 [GRCh38] Chr17:40696160..40696161 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003014950] |
Chr17:42538421 [GRCh38] Chr17:40690439 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.531+16C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002593360] |
Chr17:42537561 [GRCh38] Chr17:40689579 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.763A>C (p.Arg255=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002797192] |
Chr17:42538754 [GRCh38] Chr17:40690772 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002927882] |
Chr17:42543195 [GRCh38] Chr17:40695213 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.306C>G (p.Ala102=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002866544] |
Chr17:42536578 [GRCh38] Chr17:40688596 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1782T>A (p.Ala594=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002662956] |
Chr17:42543788 [GRCh38] Chr17:40695806 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.576C>T (p.Phe192=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002953786] |
Chr17:42538383 [GRCh38] Chr17:40690401 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1134C>G (p.Leu378=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002796304] |
Chr17:42543140 [GRCh38] Chr17:40695158 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1610T>C (p.Phe537Ser) |
single nucleotide variant |
not provided [RCV003036948] |
Chr17:42543616 [GRCh38] Chr17:40695634 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.249G>A (p.Val83=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002760696] |
Chr17:42536521 [GRCh38] Chr17:40688539 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002785498] |
Chr17:42544213 [GRCh38] Chr17:40696231 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.663G>A (p.Lys221=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003036534] |
Chr17:42538470 [GRCh38] Chr17:40690488 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003053664] |
Chr17:42536312 [GRCh38] Chr17:40688330 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003038048] |
Chr17:42543656 [GRCh38] Chr17:40695674 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003021049] |
Chr17:42543562 [GRCh38] Chr17:40695580 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003003082] |
Chr17:42536550 [GRCh38] Chr17:40688568 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003055622]|Mucopolysaccharidosis, MPS-III-B [RCV004763517] |
Chr17:42541071 [GRCh38] Chr17:40693089 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1812G>C (p.Pro604=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002800128] |
Chr17:42543818 [GRCh38] Chr17:40695836 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002696199] |
Chr17:42544216 [GRCh38] Chr17:40696234 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1044G>A (p.Leu348=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002825334] |
Chr17:42543050 [GRCh38] Chr17:40695068 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002740394] |
Chr17:42543058 [GRCh38] Chr17:40695076 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.252G>A (p.Ala84=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003039549] |
Chr17:42536524 [GRCh38] Chr17:40688542 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003003160] |
Chr17:42543929 [GRCh38] Chr17:40695947 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1966C>T (p.Leu656=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003038849] |
Chr17:42543972 [GRCh38] Chr17:40695990 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002910102] |
Chr17:42538426 [GRCh38] Chr17:40690444 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002909476] |
Chr17:42541120 [GRCh38] Chr17:40693138 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003019452] |
Chr17:42543147 [GRCh38] Chr17:40695165 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002846657] |
Chr17:42536598 [GRCh38] Chr17:40688616 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003020633] |
Chr17:42543810 [GRCh38] Chr17:40695828 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003100650] |
Chr17:42543924 [GRCh38] Chr17:40695942 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1254A>T (p.Gly418=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003079446] |
Chr17:42543260 [GRCh38] Chr17:40695278 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002847702]|Mucopolysaccharidosis, MPS-III-B [RCV003340543] |
Chr17:42543069 [GRCh38] Chr17:40695087 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002636764] |
Chr17:42543183 [GRCh38] Chr17:40695201 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.741del (p.His248fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV002797040] |
Chr17:42538729 [GRCh38] Chr17:40690747 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003037918] |
Chr17:42537460 [GRCh38] Chr17:40689478 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003020151] |
Chr17:42543885 [GRCh38] Chr17:40695903 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.225G>T (p.Val75=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003020427] |
Chr17:42536497 [GRCh38] Chr17:40688515 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002979073] |
Chr17:42543889 [GRCh38] Chr17:40695907 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.975C>A (p.Ser325=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002999845] |
Chr17:42541160 [GRCh38] Chr17:40693178 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-19C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002659696] |
Chr17:42537379 [GRCh38] Chr17:40689397 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002637951] |
Chr17:42543096 [GRCh38] Chr17:40695114 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002953028] |
Chr17:42541042 [GRCh38] Chr17:40693060 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1566C>A (p.Ser522=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003053801] |
Chr17:42543572 [GRCh38] Chr17:40695590 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.148G>C (p.Val50Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002636839] |
Chr17:42536420 [GRCh38] Chr17:40688438 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His) |
single nucleotide variant |
Inborn genetic diseases [RCV003052827]|Mucopolysaccharidosis, MPS-III-B [RCV003052826] |
Chr17:42543547 [GRCh38] Chr17:40695565 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003078436]|not provided [RCV003134640] |
Chr17:42537460 [GRCh38] Chr17:40689478 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1245T>C (p.Gly415=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003002579] |
Chr17:42543251 [GRCh38] Chr17:40695269 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2046G>A (p.Leu682=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002640090] |
Chr17:42544052 [GRCh38] Chr17:40696070 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.588T>G (p.Pro196=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003036271] |
Chr17:42538395 [GRCh38] Chr17:40690413 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003078214] |
Chr17:42536621 [GRCh38] Chr17:40688639 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1021+9C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002638106] |
Chr17:42541215 [GRCh38] Chr17:40693233 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1221G>T (p.Leu407=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003036011] |
Chr17:42543227 [GRCh38] Chr17:40695245 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002761573] |
Chr17:42536444 [GRCh38] Chr17:40688462 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003054238] |
Chr17:42543915 [GRCh38] Chr17:40695933 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002636551] |
Chr17:42541141 [GRCh38] Chr17:40693159 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.641del (p.Leu214fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV002847846] |
Chr17:42538448 [GRCh38] Chr17:40690466 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002570974] |
Chr17:42544048 [GRCh38] Chr17:40696066 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.82dup (p.Glu28fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV003054861] |
Chr17:42536351..42536352 [GRCh38] Chr17:40688369..40688370 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV002923656]|not provided [RCV003130783] |
Chr17:42543494..42543513 [GRCh38] Chr17:40695512..40695531 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002620025] |
Chr17:42536652 [GRCh38] Chr17:40688670 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.678+8del |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV002824359] |
Chr17:42538492 [GRCh38] Chr17:40690510 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV002847923] |
Chr17:42536351..42536352 [GRCh38] Chr17:40688369..40688370 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.446del (p.Arg149fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003055225] |
Chr17:42537460 [GRCh38] Chr17:40689478 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003019275] |
Chr17:42543870 [GRCh38] Chr17:40695888 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.54C>A (p.Ala18=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002620743] |
Chr17:42536326 [GRCh38] Chr17:40688344 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.531+10C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002913632] |
Chr17:42537555 [GRCh38] Chr17:40689573 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002690597] |
Chr17:42541063 [GRCh38] Chr17:40693081 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002760999] |
Chr17:42544027 [GRCh38] Chr17:40696045 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003077907]|Mucopolysaccharidosis, MPS-III-B [RCV003077908] |
Chr17:42543354 [GRCh38] Chr17:40695372 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003079051] |
Chr17:42543895 [GRCh38] Chr17:40695913 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003019342] |
Chr17:42538698 [GRCh38] Chr17:40690716 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.886C>T (p.Leu296=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002851363] |
Chr17:42541071 [GRCh38] Chr17:40693089 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1707G>A (p.Gln569=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002958370] |
Chr17:42543713 [GRCh38] Chr17:40695731 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002786416] |
Chr17:42543078 [GRCh38] Chr17:40695096 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002663964] |
Chr17:42543445 [GRCh38] Chr17:40695463 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.531+15T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002851437] |
Chr17:42537560 [GRCh38] Chr17:40689578 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.555C>G (p.Thr185=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002959059] |
Chr17:42538362 [GRCh38] Chr17:40690380 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1488A>C (p.Leu496=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003056663] |
Chr17:42543494 [GRCh38] Chr17:40695512 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002801413] |
Chr17:42536472 [GRCh38] Chr17:40688490 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2061C>T (p.Ala687=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002710887] |
Chr17:42544067 [GRCh38] Chr17:40696085 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.32G>C (p.Gly11Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002766269] |
Chr17:42536304 [GRCh38] Chr17:40688322 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003084910] |
Chr17:42537486 [GRCh38] Chr17:40689504 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003084911] |
Chr17:42541164 [GRCh38] Chr17:40693182 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002918429] |
Chr17:42541039 [GRCh38] Chr17:40693057 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.93C>T (p.Ala31=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002805726] |
Chr17:42536365 [GRCh38] Chr17:40688383 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002918584] |
Chr17:42543297 [GRCh38] Chr17:40695315 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002624854]|not provided [RCV004697254] |
Chr17:42543397 [GRCh38] Chr17:40695415 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.717C>T (p.Thr239=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003025866] |
Chr17:42538708 [GRCh38] Chr17:40690726 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.202G>A (p.Gly68Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002957563] |
Chr17:42536474 [GRCh38] Chr17:40688492 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002791298] |
Chr17:42536631 [GRCh38] Chr17:40688649 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003084565]|not specified [RCV004700945] |
Chr17:42536444 [GRCh38] Chr17:40688462 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002597024] |
Chr17:42544224 [GRCh38] Chr17:40696242 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002711638] |
Chr17:42543478 [GRCh38] Chr17:40695496 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.474G>A (p.Ala158=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002828648] |
Chr17:42537488 [GRCh38] Chr17:40689506 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002890843] |
Chr17:42536391 [GRCh38] Chr17:40688409 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003022820] |
Chr17:42538445 [GRCh38] Chr17:40690463 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.242C>T (p.Thr81Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002800927] |
Chr17:42536514 [GRCh38] Chr17:40688532 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.327C>A (p.Arg109=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002851130] |
Chr17:42536599 [GRCh38] Chr17:40688617 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003041306] |
Chr17:42537471 [GRCh38] Chr17:40689489 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.654G>A (p.Trp218Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003005516] |
Chr17:42538461 [GRCh38] Chr17:40690479 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.248T>G (p.Val83Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002981811] |
Chr17:42536520 [GRCh38] Chr17:40688538 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002953922]|Mucopolysaccharidosis, MPS-III-B [RCV002953923] |
Chr17:42536531 [GRCh38] Chr17:40688549 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.329dup (p.Pro111fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV002829468] |
Chr17:42536600..42536601 [GRCh38] Chr17:40688618..40688619 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002667880] |
Chr17:42537540 [GRCh38] Chr17:40689558 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002624461] |
Chr17:42538419 [GRCh38] Chr17:40690437 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1022-18C>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002623673] |
Chr17:42543010 [GRCh38] Chr17:40695028 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003057465] |
Chr17:42536328 [GRCh38] Chr17:40688346 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1712T>C (p.Leu571Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002763176] |
Chr17:42543718 [GRCh38] Chr17:40695736 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002701154] |
Chr17:42536346 [GRCh38] Chr17:40688364 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.679-19C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002597028] |
Chr17:42538651 [GRCh38] Chr17:40690669 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002919242] |
Chr17:42544105 [GRCh38] Chr17:40696123 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002790813] |
Chr17:42543591 [GRCh38] Chr17:40695609 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.384-11A>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002663401] |
Chr17:42537387 [GRCh38] Chr17:40689405 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.444C>T (p.Ala148=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002712082] |
Chr17:42537458 [GRCh38] Chr17:40689476 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.780C>A (p.Val260=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003040422] |
Chr17:42540965 [GRCh38] Chr17:40692983 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1497G>A (p.Arg499=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002801607] |
Chr17:42543503 [GRCh38] Chr17:40695521 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004636660]|Mucopolysaccharidosis, MPS-III-B [RCV003084956]|Mucopolysaccharidosis, MPS-III-B [RCV003138513] |
Chr17:42536634 [GRCh38] Chr17:40688652 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002875856] |
Chr17:42541069 [GRCh38] Chr17:40693087 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1443G>A (p.Arg481=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002642882] |
Chr17:42543449 [GRCh38] Chr17:40695467 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1938G>A (p.Leu646=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003006013] |
Chr17:42543944 [GRCh38] Chr17:40695962 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003041307] |
Chr17:42538716 [GRCh38] Chr17:40690734 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.39T>G (p.Leu13=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002595485] |
Chr17:42536311 [GRCh38] Chr17:40688329 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1766C>T (p.Ala589Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002982207] |
Chr17:42543772 [GRCh38] Chr17:40695790 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002790715] |
Chr17:42544074 [GRCh38] Chr17:40696092 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1683G>A (p.Leu561=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002828461] |
Chr17:42543689 [GRCh38] Chr17:40695707 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.318T>G (p.Ser106=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002853316] |
Chr17:42536590 [GRCh38] Chr17:40688608 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002595192] |
Chr17:42537541 [GRCh38] Chr17:40689559 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003057323] |
Chr17:42536576 [GRCh38] Chr17:40688594 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.192C>T (p.Thr64=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003081835] |
Chr17:42536464 [GRCh38] Chr17:40688482 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+5C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002628523] |
Chr17:42536660 [GRCh38] Chr17:40688678 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.498G>T (p.Leu166=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003029905] |
Chr17:42537512 [GRCh38] Chr17:40689530 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.679-11T>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003049109] |
Chr17:42538659 [GRCh38] Chr17:40690677 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.348C>A (p.Ala116=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002630092] |
Chr17:42536620 [GRCh38] Chr17:40688638 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003028907] |
Chr17:42543184 [GRCh38] Chr17:40695202 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.384-4G>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002632949] |
Chr17:42537394 [GRCh38] Chr17:40689412 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1335C>G (p.Pro445=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003049425] |
Chr17:42543341 [GRCh38] Chr17:40695359 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.351G>A (p.Val117=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002938645] |
Chr17:42536623 [GRCh38] Chr17:40688641 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004070238]|Mucopolysaccharidosis, MPS-III-B [RCV003060249] |
Chr17:42544221 [GRCh38] Chr17:40696239 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.54C>T (p.Ala18=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002578328] |
Chr17:42536326 [GRCh38] Chr17:40688344 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003091451]|Mucopolysaccharidosis, MPS-III-B [RCV003070421] |
Chr17:42543546 [GRCh38] Chr17:40695564 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.223G>A (p.Val75Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002675623] |
Chr17:42536495 [GRCh38] Chr17:40688513 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003063102] |
Chr17:42537467 [GRCh38] Chr17:40689485 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1021+16G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003030276] |
Chr17:42541222 [GRCh38] Chr17:40693240 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002962463] |
Chr17:42543645 [GRCh38] Chr17:40695663 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003031773] |
Chr17:42543278 [GRCh38] Chr17:40695296 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002770890] |
Chr17:42541144 [GRCh38] Chr17:40693162 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1296C>T (p.Leu432=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002899512] |
Chr17:42543302 [GRCh38] Chr17:40695320 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.684G>A (p.Arg228=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002632381] |
Chr17:42538675 [GRCh38] Chr17:40690693 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002629719] |
Chr17:42538710 [GRCh38] Chr17:40690728 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002651183]|not provided [RCV003134674] |
Chr17:42541084 [GRCh38] Chr17:40693102 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.34dup (p.Val12fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV003088440] |
Chr17:42536301..42536302 [GRCh38] Chr17:40688319..40688320 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003064443]|not provided [RCV004721102] |
Chr17:42536507 [GRCh38] Chr17:40688525 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003091293] |
Chr17:42540967 [GRCh38] Chr17:40692985 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003065808] |
Chr17:42541147 [GRCh38] Chr17:40693165 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002720491] |
Chr17:42541201 [GRCh38] Chr17:40693219 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003026368] |
Chr17:42543741 [GRCh38] Chr17:40695759 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1644C>T (p.Pro548=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002649668] |
Chr17:42543650 [GRCh38] Chr17:40695668 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.930G>A (p.Gly310=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002832909] |
Chr17:42541115 [GRCh38] Chr17:40693133 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1833T>G (p.Ala611=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002899381] |
Chr17:42543839 [GRCh38] Chr17:40695857 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003089478] |
Chr17:42537424 [GRCh38] Chr17:40689442 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1698G>A (p.Gln566=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002770747] |
Chr17:42543704 [GRCh38] Chr17:40695722 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003089295] |
Chr17:42541179 [GRCh38] Chr17:40693197 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.738G>C (p.Ala246=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003061446] |
Chr17:42538729 [GRCh38] Chr17:40690747 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003029393] |
Chr17:42544086 [GRCh38] Chr17:40696104 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.120G>A (p.Leu40=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003044916] |
Chr17:42536392 [GRCh38] Chr17:40688410 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1725C>T (p.Tyr575=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002899460] |
Chr17:42543731 [GRCh38] Chr17:40695749 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002833649] |
Chr17:42543213 [GRCh38] Chr17:40695231 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002599703] |
Chr17:42543311 [GRCh38] Chr17:40695329 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002857746] |
Chr17:42536508 [GRCh38] Chr17:40688526 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.998_1014del (p.Ala333fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV002791925] |
Chr17:42541181..42541197 [GRCh38] Chr17:40693199..40693215 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003030895] |
Chr17:42544145 [GRCh38] Chr17:40696163 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002933550] |
Chr17:42538353 [GRCh38] Chr17:40690371 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.621G>A (p.Leu207=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002578687] |
Chr17:42538428 [GRCh38] Chr17:40690446 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003090729] |
Chr17:42541170 [GRCh38] Chr17:40693188 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003087762] |
Chr17:42538752 [GRCh38] Chr17:40690770 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002599354] |
Chr17:42543502 [GRCh38] Chr17:40695520 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003028286] |
Chr17:42543549 [GRCh38] Chr17:40695567 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003043925] |
Chr17:42537463 [GRCh38] Chr17:40689481 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003050470]|Mucopolysaccharidosis, MPS-III-B [RCV003064442]|not provided [RCV003126267] |
Chr17:42536384 [GRCh38] Chr17:40688402 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del) |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV003061973] |
Chr17:42543743..42543745 [GRCh38] Chr17:40695761..40695763 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.36C>T (p.Val12=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002938222] |
Chr17:42536308 [GRCh38] Chr17:40688326 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2001G>A (p.Val667=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002746666] |
Chr17:42544007 [GRCh38] Chr17:40696025 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1812G>A (p.Pro604=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002581033] |
Chr17:42543818 [GRCh38] Chr17:40695836 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+6G>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002646361] |
Chr17:42536661 [GRCh38] Chr17:40688679 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003065683] |
Chr17:42543676 [GRCh38] Chr17:40695694 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1704G>A (p.Val568=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003060639] |
Chr17:42543710 [GRCh38] Chr17:40695728 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003046951] |
Chr17:42543702 [GRCh38] Chr17:40695720 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2205C>A (p.Tyr735Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002834219] |
Chr17:42544211 [GRCh38] Chr17:40696229 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1764G>A (p.Leu588=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002811771] |
Chr17:42543770 [GRCh38] Chr17:40695788 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.147del (p.Val50fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003049183] |
Chr17:42536418 [GRCh38] Chr17:40688436 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.21C>G (p.Ala7=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002967135] |
Chr17:42536293 [GRCh38] Chr17:40688311 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002601039] |
Chr17:42536589 [GRCh38] Chr17:40688607 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002810951] |
Chr17:42543397 [GRCh38] Chr17:40695415 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002628221] |
Chr17:42543628 [GRCh38] Chr17:40695646 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002650495] |
Chr17:42543270 [GRCh38] Chr17:40695288 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1022-2A>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003064444] |
Chr17:42543026 [GRCh38] Chr17:40695044 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002806367] |
Chr17:42543927 [GRCh38] Chr17:40695945 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002937854] |
Chr17:42536418 [GRCh38] Chr17:40688436 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.764+17C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002650567] |
Chr17:42538772 [GRCh38] Chr17:40690790 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.678+10T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002962104] |
Chr17:42538495 [GRCh38] Chr17:40690513 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-9T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002857567] |
Chr17:42537389 [GRCh38] Chr17:40689407 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003045949] |
Chr17:42543118 [GRCh38] Chr17:40695136 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004071763]|Mucopolysaccharidosis, MPS-III-B [RCV003069089] |
Chr17:42536507 [GRCh38] Chr17:40688525 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_000263.4(NAGLU):c.762C>A (p.Thr254=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002653106] |
Chr17:42538753 [GRCh38] Chr17:40690771 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002654163] |
Chr17:42536345 [GRCh38] Chr17:40688363 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003051413] |
Chr17:42536316 [GRCh38] Chr17:40688334 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002584661] |
Chr17:42538712 [GRCh38] Chr17:40690730 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003069332] |
Chr17:42543670 [GRCh38] Chr17:40695688 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.849G>A (p.Pro283=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003050965] |
Chr17:42541034 [GRCh38] Chr17:40693052 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003092601] |
Chr17:42543604 [GRCh38] Chr17:40695622 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003093220] |
Chr17:42536435 [GRCh38] Chr17:40688453 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003092654]|Mucopolysaccharidosis, MPS-III-B [RCV003073506] |
Chr17:42543723 [GRCh38] Chr17:40695741 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003050473] |
Chr17:42543488 [GRCh38] Chr17:40695506 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002589954] |
Chr17:42543917 [GRCh38] Chr17:40695935 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.258C>T (p.Ala86=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002585344]|not provided [RCV003420353] |
Chr17:42536530 [GRCh38] Chr17:40688548 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.647C>A (p.Pro216His) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002606982] |
Chr17:42538454 [GRCh38] Chr17:40690472 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003068067] |
Chr17:42538728 [GRCh38] Chr17:40690746 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003068132] |
Chr17:42543669 [GRCh38] Chr17:40695687 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.759C>T (p.Val253=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003071174] |
Chr17:42538750 [GRCh38] Chr17:40690768 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1719C>T (p.Ser573=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002814470] |
Chr17:42543725 [GRCh38] Chr17:40695743 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002814518] |
Chr17:42543618 [GRCh38] Chr17:40695636 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.383+3A>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003092822] |
Chr17:42536658 [GRCh38] Chr17:40688676 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002633824] |
Chr17:42536489 [GRCh38] Chr17:40688507 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002611292] |
Chr17:42543828 [GRCh38] Chr17:40695846 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1293C>T (p.Arg431=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002814758] |
Chr17:42543299 [GRCh38] Chr17:40695317 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002654411] |
Chr17:42543490 [GRCh38] Chr17:40695508 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1140T>A (p.Val380=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002611511] |
Chr17:42543146 [GRCh38] Chr17:40695164 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002944117] |
Chr17:42543661 [GRCh38] Chr17:40695679 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.465C>T (p.Asp155=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003050287] |
Chr17:42537479 [GRCh38] Chr17:40689497 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.738G>A (p.Ala246=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002609717] |
Chr17:42538729 [GRCh38] Chr17:40690747 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002611763] |
Chr17:42543129 [GRCh38] Chr17:40695147 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.764+16C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003068380] |
Chr17:42538771 [GRCh38] Chr17:40690789 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003050471] |
Chr17:42536416 [GRCh38] Chr17:40688434 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003068709] |
Chr17:42544060 [GRCh38] Chr17:40696078 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003067451]|not provided [RCV004775286] |
Chr17:42543514 [GRCh38] Chr17:40695532 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003071005] |
Chr17:42543921 [GRCh38] Chr17:40695939 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV002610563] |
Chr17:42536309 [GRCh38] Chr17:40688327 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.384-32_384-20dup |
duplication |
not specified [RCV003155735] |
Chr17:42537363..42537364 [GRCh38] Chr17:40689381..40689382 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_000263.4(NAGLU):c.2054G>T (p.Ser685Ile) |
single nucleotide variant |
not provided [RCV003131681] |
Chr17:42544060 [GRCh38] Chr17:40696078 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1493T>C (p.Leu498Pro) |
single nucleotide variant |
not specified [RCV003226657] |
Chr17:42543499 [GRCh38] Chr17:40695517 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003779829]|not provided [RCV003229294] |
Chr17:42543655 [GRCh38] Chr17:40695673 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1915delinsTT (p.Glu639fs) |
indel |
not provided [RCV003135306] |
Chr17:42543921 [GRCh38] Chr17:40695939 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.765-782A>G |
single nucleotide variant |
not provided [RCV003142643] |
Chr17:42540168 [GRCh38] Chr17:40692186 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2214G>A (p.Trp738Ter) |
single nucleotide variant |
not specified [RCV003226656] |
Chr17:42544220 [GRCh38] Chr17:40696238 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.445C>T (p.Arg149Cys) |
single nucleotide variant |
not provided [RCV004598612] |
Chr17:42537459 [GRCh38] Chr17:40689477 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1744G>T (p.Ala582Ser) |
single nucleotide variant |
Tip-toe gait [RCV003319156] |
Chr17:42543750 [GRCh38] Chr17:40695768 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.2123_2205del (p.Phe708fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003338226] |
Chr17:42544129..42544211 [GRCh38] Chr17:40696147..40696229 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.430TGG[1] (p.Trp145del) |
microsatellite |
NAGLU-related disorder [RCV003421149] |
Chr17:42537443..42537445 [GRCh38] Chr17:40689461..40689463 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.679-7C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003781526] |
Chr17:42538663 [GRCh38] Chr17:40690681 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1549C>T (p.Leu517=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003791716] |
Chr17:42543555 [GRCh38] Chr17:40695573 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003781848] |
Chr17:42541018 [GRCh38] Chr17:40693036 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1540C>G (p.Arg514Gly) |
single nucleotide variant |
not provided [RCV003428281] |
Chr17:42543546 [GRCh38] Chr17:40695564 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.383+16T>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003791565] |
Chr17:42536671 [GRCh38] Chr17:40688689 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.95T>C (p.Val32Ala) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003389026] |
Chr17:42536367 [GRCh38] Chr17:40688385 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.397C>T (p.Gln133Ter) |
single nucleotide variant |
NAGLU-related disorder [RCV003412165] |
Chr17:42537411 [GRCh38] Chr17:40689429 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.268C>T (p.His90Tyr) |
single nucleotide variant |
not provided [RCV003413236] |
Chr17:42536540 [GRCh38] Chr17:40688558 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.402T>C (p.Asn134=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003808034] |
Chr17:42537416 [GRCh38] Chr17:40689434 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.196A>T (p.Ser66Cys) |
single nucleotide variant |
not provided [RCV003489553] |
Chr17:42536468 [GRCh38] Chr17:40688486 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1311C>G (p.Thr437=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003807525] |
Chr17:42543317 [GRCh38] Chr17:40695335 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.532-14C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003797711] |
Chr17:42538325 [GRCh38] Chr17:40690343 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.765-12G>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003786923] |
Chr17:42540938 [GRCh38] Chr17:40692956 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.855C>T (p.Asp285=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003807840] |
Chr17:42541040 [GRCh38] Chr17:40693058 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+8C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003797730] |
Chr17:42536663 [GRCh38] Chr17:40688681 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2099del (p.Asn700fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003783716] |
Chr17:42544101 [GRCh38] Chr17:40696119 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.213C>T (p.Gly71=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003788657] |
Chr17:42536485 [GRCh38] Chr17:40688503 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1506C>T (p.Tyr502=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003795438] |
Chr17:42543512 [GRCh38] Chr17:40695530 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.606G>A (p.Gly202=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003791176] |
Chr17:42538413 [GRCh38] Chr17:40690431 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003783715] |
Chr17:42543178 [GRCh38] Chr17:40695196 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.762C>T (p.Thr254=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003791286] |
Chr17:42538753 [GRCh38] Chr17:40690771 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2010C>T (p.Tyr670=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003787375] |
Chr17:42544016 [GRCh38] Chr17:40696034 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.516G>A (p.Glu172=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003794051] |
Chr17:42537530 [GRCh38] Chr17:40689548 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1623G>T (p.Arg541=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003807719] |
Chr17:42543629 [GRCh38] Chr17:40695647 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1101_1112dup (p.Val373_Pro374insLeuGlyAlaVal) |
duplication |
not provided [RCV003488105] |
Chr17:42543105..42543106 [GRCh38] Chr17:40695123..40695124 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.306C>T (p.Ala102=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003792859] |
Chr17:42536578 [GRCh38] Chr17:40688596 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.532-19G>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003806747] |
Chr17:42538320 [GRCh38] Chr17:40690338 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.184T>C (p.Leu62=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003805952] |
Chr17:42536456 [GRCh38] Chr17:40688474 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.24G>A (p.Ala8=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003785477] |
Chr17:42536296 [GRCh38] Chr17:40688314 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003806897] |
Chr17:42543693..42543696 [GRCh38] Chr17:40695711..40695714 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1767C>A (p.Ala589=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003782820] |
Chr17:42543773 [GRCh38] Chr17:40695791 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003796949] |
Chr17:42543047 [GRCh38] Chr17:40695065 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.660C>A (p.Ile220=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003789300] |
Chr17:42538467 [GRCh38] Chr17:40690485 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1088_1089dup (p.Ala364fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV003782929] |
Chr17:42543092..42543093 [GRCh38] Chr17:40695110..40695111 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1998G>A (p.Leu666=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003808010]|NAGLU-related disorder [RCV003893413] |
Chr17:42544004 [GRCh38] Chr17:40696022 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1569A>G (p.Leu523=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003806041] |
Chr17:42543575 [GRCh38] Chr17:40695593 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.322C>T (p.Leu108=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003784408] |
Chr17:42536594 [GRCh38] Chr17:40688612 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.765-14T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003807450] |
Chr17:42540936 [GRCh38] Chr17:40692954 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.615C>T (p.Gly205=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003808023] |
Chr17:42538422 [GRCh38] Chr17:40690440 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.993C>G (p.Thr331=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003789511] |
Chr17:42541178 [GRCh38] Chr17:40693196 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2004C>A (p.Ala668=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003785577] |
Chr17:42544010 [GRCh38] Chr17:40696028 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1852C>T (p.Leu618=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003794776] |
Chr17:42543858 [GRCh38] Chr17:40695876 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1572G>A (p.Gln524=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003806330] |
Chr17:42543578 [GRCh38] Chr17:40695596 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1869G>A (p.Glu623=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003807454] |
Chr17:42543875 [GRCh38] Chr17:40695893 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.243G>T (p.Thr81=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003785528] |
Chr17:42536515 [GRCh38] Chr17:40688533 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.594C>T (p.Phe198=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003806342] |
Chr17:42538401 [GRCh38] Chr17:40690419 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.532-11T>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003781761] |
Chr17:42538328 [GRCh38] Chr17:40690346 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1238del (p.Asn413fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003779413] |
Chr17:42543242 [GRCh38] Chr17:40695260 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003781850] |
Chr17:42543952 [GRCh38] Chr17:40695970 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1977C>T (p.Ala659=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003806579] |
Chr17:42543983 [GRCh38] Chr17:40696001 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1470A>G (p.Ala490=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003784786] |
Chr17:42543476 [GRCh38] Chr17:40695494 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003794451] |
Chr17:42543354 [GRCh38] Chr17:40695372 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.532-18T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003786099] |
Chr17:42538321 [GRCh38] Chr17:40690339 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.679-6C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003795197] |
Chr17:42538664 [GRCh38] Chr17:40690682 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.237_244dup (p.Gly82fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV003804186] |
Chr17:42536505..42536506 [GRCh38] Chr17:40688523..40688524 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2076C>T (p.Phe692=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003794567] |
Chr17:42544082 [GRCh38] Chr17:40696100 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003783712] |
Chr17:42537402 [GRCh38] Chr17:40689420 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.764+20del |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003794525] |
Chr17:42538771 [GRCh38] Chr17:40690789 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.390C>G (p.Arg130=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003806369] |
Chr17:42537404 [GRCh38] Chr17:40689422 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1359G>A (p.Val453=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003791754] |
Chr17:42543365 [GRCh38] Chr17:40695383 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1824G>A (p.Glu608=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003788681] |
Chr17:42543830 [GRCh38] Chr17:40695848 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1025del (p.Asp342fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003791786] |
Chr17:42543031 [GRCh38] Chr17:40695049 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003781491] |
Chr17:42543681 [GRCh38] Chr17:40695699 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.496C>T (p.Leu166=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003796040] |
Chr17:42537510 [GRCh38] Chr17:40689528 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.531+8C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003794184] |
Chr17:42537553 [GRCh38] Chr17:40689571 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+13A>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003792588] |
Chr17:42536668 [GRCh38] Chr17:40688686 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1491G>C (p.Leu497=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003805705] |
Chr17:42543497 [GRCh38] Chr17:40695515 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1177del (p.Arg393fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003805711] |
Chr17:42543181 [GRCh38] Chr17:40695199 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.519C>T (p.Ala173=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003780063] |
Chr17:42537533 [GRCh38] Chr17:40689551 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003789454] |
Chr17:42536274 [GRCh38] Chr17:40688292 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1842C>T (p.Ser614=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003796048] |
Chr17:42543848 [GRCh38] Chr17:40695866 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+17T>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003786463] |
Chr17:42536672 [GRCh38] Chr17:40688690 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.765-17C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003792982] |
Chr17:42540933 [GRCh38] Chr17:40692951 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+15C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003805369] |
Chr17:42536670 [GRCh38] Chr17:40688688 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.261G>T (p.Ala87=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003791231] |
Chr17:42536533 [GRCh38] Chr17:40688551 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1263G>A (p.Glu421=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003785373] |
Chr17:42543269 [GRCh38] Chr17:40695287 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2070C>T (p.Ile690=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003807077] |
Chr17:42544076 [GRCh38] Chr17:40696094 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.531+17C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003793258] |
Chr17:42537562 [GRCh38] Chr17:40689580 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1337A>G (p.Glu446Gly) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003779414] |
Chr17:42543343 [GRCh38] Chr17:40695361 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.679-16C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003784446] |
Chr17:42538654 [GRCh38] Chr17:40690672 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.207C>T (p.Gly69=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003805961] |
Chr17:42536479 [GRCh38] Chr17:40688497 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1022-14C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003780928] |
Chr17:42543014 [GRCh38] Chr17:40695032 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1632C>T (p.Leu544=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003793604] |
Chr17:42543638 [GRCh38] Chr17:40695656 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1380G>A (p.Glu460=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003789808] |
Chr17:42543386 [GRCh38] Chr17:40695404 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+2T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003805088] |
Chr17:42538757 [GRCh38] Chr17:40690775 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003786334] |
Chr17:42543831 [GRCh38] Chr17:40695849 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.543C>G (p.Ala181=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003806852] |
Chr17:42538350 [GRCh38] Chr17:40690368 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.63G>A (p.Ala21=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003792265] |
Chr17:42536335 [GRCh38] Chr17:40688353 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1803G>A (p.Glu601=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003784168] |
Chr17:42543809 [GRCh38] Chr17:40695827 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.537C>T (p.Tyr179=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003795463] |
Chr17:42538344 [GRCh38] Chr17:40690362 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1021+11T>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003792048] |
Chr17:42541217 [GRCh38] Chr17:40693235 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1050A>G (p.Gln350=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003791346] |
Chr17:42543056 [GRCh38] Chr17:40695074 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003781849] |
Chr17:42543370 [GRCh38] Chr17:40695388 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.384-12C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003792860] |
Chr17:42537386 [GRCh38] Chr17:40689404 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1097T>A (p.Ile366Asn) |
single nucleotide variant |
not provided [RCV003488106] |
Chr17:42543103 [GRCh38] Chr17:40695121 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003787398] |
Chr17:42538724 [GRCh38] Chr17:40690742 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.354G>A (p.Pro118=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003782173] |
Chr17:42536626 [GRCh38] Chr17:40688644 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1692T>C (p.Thr564=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003792438] |
Chr17:42543698 [GRCh38] Chr17:40695716 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.648C>A (p.Pro216=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003793844] |
Chr17:42538455 [GRCh38] Chr17:40690473 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1203C>G (p.Pro401=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003783848] |
Chr17:42543209 [GRCh38] Chr17:40695227 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+20C>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003791651] |
Chr17:42538775 [GRCh38] Chr17:40690793 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2205C>T (p.Tyr735=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003782208] |
Chr17:42544211 [GRCh38] Chr17:40696229 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1021+13G>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003804305] |
Chr17:42541219 [GRCh38] Chr17:40693237 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.679-15_679-12del |
microsatellite |
Mucopolysaccharidosis, MPS-III-B [RCV003793015] |
Chr17:42538650..42538653 [GRCh38] Chr17:40690668..40690671 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1116T>C (p.Ala372=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003782766] |
Chr17:42543122 [GRCh38] Chr17:40695140 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.678+7G>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003804166] |
Chr17:42538492 [GRCh38] Chr17:40690510 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.765-5A>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003786691] |
Chr17:42540945 [GRCh38] Chr17:40692963 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003781415] |
Chr17:42543230 [GRCh38] Chr17:40695248 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003783714] |
Chr17:42537496 [GRCh38] Chr17:40689514 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.21C>T (p.Ala7=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003783251] |
Chr17:42536293 [GRCh38] Chr17:40688311 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.672C>T (p.Tyr224=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003809969] |
Chr17:42538479 [GRCh38] Chr17:40690497 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.595del (p.Leu199fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003808992] |
Chr17:42538401 [GRCh38] Chr17:40690419 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.15G>A (p.Ala5=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003799893] |
Chr17:42536287 [GRCh38] Chr17:40688305 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.384-12C>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003813528] |
Chr17:42537386 [GRCh38] Chr17:40689404 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.679-19C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003810177] |
Chr17:42538651 [GRCh38] Chr17:40690669 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.532-6C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003801251] |
Chr17:42538333 [GRCh38] Chr17:40690351 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1695G>T (p.Arg565=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003797983] |
Chr17:42543701 [GRCh38] Chr17:40695719 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1022-17C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003800151] |
Chr17:42543011 [GRCh38] Chr17:40695029 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.12G>A (p.Val4=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003808176] |
Chr17:42536284 [GRCh38] Chr17:40688302 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2066del (p.Gly689fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003808344] |
Chr17:42544070 [GRCh38] Chr17:40696088 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2211C>T (p.Arg737=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003809512] |
Chr17:42544217 [GRCh38] Chr17:40696235 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1665C>T (p.Ala555=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003813355] |
Chr17:42543671 [GRCh38] Chr17:40695689 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.312C>T (p.Ser104=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003799440] |
Chr17:42536584 [GRCh38] Chr17:40688602 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.354G>T (p.Pro118=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003813643] |
Chr17:42536626 [GRCh38] Chr17:40688644 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003812963] |
Chr17:42543235 [GRCh38] Chr17:40695253 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.384-18T>C |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003812362] |
Chr17:42537380 [GRCh38] Chr17:40689398 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.678+17G>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003812412] |
Chr17:42538502 [GRCh38] Chr17:40690520 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.764+10C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003799961] |
Chr17:42538765 [GRCh38] Chr17:40690783 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.765-5A>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003815562] |
Chr17:42540945 [GRCh38] Chr17:40692963 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1359G>T (p.Val453=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003815571] |
Chr17:42543365 [GRCh38] Chr17:40695383 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1043T>G (p.Leu348Arg) |
single nucleotide variant |
not specified [RCV003994917] |
Chr17:42543049 [GRCh38] Chr17:40695067 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.764+9C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003801955] |
Chr17:42538764 [GRCh38] Chr17:40690782 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1302C>G (p.Pro434=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003818133] |
Chr17:42543308 [GRCh38] Chr17:40695326 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.679-18T>A |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003797935] |
Chr17:42538652 [GRCh38] Chr17:40690670 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.679-20C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003799066] |
Chr17:42538650 [GRCh38] Chr17:40690668 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1086G>C (p.Gly362=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003818033] |
Chr17:42543092 [GRCh38] Chr17:40695110 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.129C>A (p.Gly43=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003801882] |
Chr17:42536401 [GRCh38] Chr17:40688419 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003801507] |
Chr17:42537433 [GRCh38] Chr17:40689451 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.870C>T (p.Ile290=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003798758] |
Chr17:42541055 [GRCh38] Chr17:40693073 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1431C>T (p.Ser477=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003810546] |
Chr17:42543437 [GRCh38] Chr17:40695455 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.490del (p.Leu164fs) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003801789] |
Chr17:42537503 [GRCh38] Chr17:40689521 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.165T>C (p.Ala55=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003808460] |
Chr17:42536437 [GRCh38] Chr17:40688455 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.939T>A (p.Thr313=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003801794] |
Chr17:42541124 [GRCh38] Chr17:40693142 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+7C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003817936] |
Chr17:42536662 [GRCh38] Chr17:40688680 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.183C>A (p.Gly61=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003810303] |
Chr17:42536455 [GRCh38] Chr17:40688473 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003801394] |
Chr17:42536649 [GRCh38] Chr17:40688667 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.383+17del |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003810453] |
Chr17:42536671 [GRCh38] Chr17:40688689 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1728T>C (p.Tyr576=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003815325] |
Chr17:42543734 [GRCh38] Chr17:40695752 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs) |
duplication |
Mucopolysaccharidosis, MPS-III-B [RCV003812287] |
Chr17:42538723..42538724 [GRCh38] Chr17:40690741..40690742 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1444C>A (p.Arg482=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003809747] |
Chr17:42543450 [GRCh38] Chr17:40695468 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2085C>T (p.His695=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003800702] |
Chr17:42544091 [GRCh38] Chr17:40696109 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2067C>T (p.Gly689=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003812603] |
Chr17:42544073 [GRCh38] Chr17:40696091 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1987C>T (p.Leu663=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003798591] |
Chr17:42543993 [GRCh38] Chr17:40696011 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.2154G>A (p.Gln718=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003813537] |
Chr17:42544160 [GRCh38] Chr17:40696178 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.607C>A (p.Arg203=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003801545] |
Chr17:42538414 [GRCh38] Chr17:40690432 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1665C>A (p.Ala555=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003808533] |
Chr17:42543671 [GRCh38] Chr17:40695689 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1095G>A (p.Gln365=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003815234] |
Chr17:42543101 [GRCh38] Chr17:40695119 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1509C>T (p.Asn503=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003808753] |
Chr17:42543515 [GRCh38] Chr17:40695533 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.549C>T (p.Gly183=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003809585] |
Chr17:42538356 [GRCh38] Chr17:40690374 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.383+10del |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003813261] |
Chr17:42536662 [GRCh38] Chr17:40688680 [GRCh37] Chr17:17q21.2 |
benign |
NM_000263.4(NAGLU):c.679-16C>G |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003797936] |
Chr17:42538654 [GRCh38] Chr17:40690672 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1626G>A (p.Leu542=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003800704] |
Chr17:42543632 [GRCh38] Chr17:40695650 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.210C>T (p.Gly70=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003801305] |
Chr17:42536482 [GRCh38] Chr17:40688500 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.483C>T (p.Gly161=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003802642] |
Chr17:42537497 [GRCh38] Chr17:40689515 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003802807] |
Chr17:42537422 [GRCh38] Chr17:40689440 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.2145C>T (p.Tyr715=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003802419] |
Chr17:42544151 [GRCh38] Chr17:40696169 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.549C>G (p.Gly183=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003802886] |
Chr17:42538356 [GRCh38] Chr17:40690374 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003802506] |
Chr17:42543687 [GRCh38] Chr17:40695705 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.764+14C>T |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003803231] |
Chr17:42538769 [GRCh38] Chr17:40690787 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del) |
deletion |
Mucopolysaccharidosis, MPS-III-B [RCV003802062] |
Chr17:42536600..42536611 [GRCh38] Chr17:40688618..40688629 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1122C>A (p.Pro374=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003803604] |
Chr17:42543128 [GRCh38] Chr17:40695146 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1815A>G (p.Ala605=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003803668] |
Chr17:42543821 [GRCh38] Chr17:40695839 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1086G>T (p.Gly362=) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003802581] |
Chr17:42543092 [GRCh38] Chr17:40695110 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV003802986] |
Chr17:42543834 [GRCh38] Chr17:40695852 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.*8G>A |
single nucleotide variant |
NAGLU-related disorder [RCV003959831] |
Chr17:42544246 [GRCh38] Chr17:40696264 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_000263.4(NAGLU):c.320A>G (p.Gln107Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004469056] |
Chr17:42536592 [GRCh38] Chr17:40688610 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1136T>G (p.Leu379Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004469017] |
Chr17:42543142 [GRCh38] Chr17:40695160 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1016C>G (p.Thr339Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004469006] |
Chr17:42541201 [GRCh38] Chr17:40693219 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1031A>C (p.Glu344Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004469010] |
Chr17:42543037 [GRCh38] Chr17:40695055 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1876C>G (p.Arg626Gly) |
single nucleotide variant |
not specified [RCV004689534] |
Chr17:42543882 [GRCh38] Chr17:40695900 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.259G>C (p.Ala87Pro) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV004689500] |
Chr17:42536531 [GRCh38] Chr17:40688549 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_000263.4(NAGLU):c.1547C>T (p.Pro516Leu) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV004689537] |
Chr17:42543553 [GRCh38] Chr17:40695571 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.1310C>T (p.Thr437Ile) |
single nucleotide variant |
Mucopolysaccharidosis, MPS-III-B [RCV004689479] |
Chr17:42543316 [GRCh38] Chr17:40695334 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_000263.4(NAGLU):c.223G>T (p.Val75Leu) |
single nucleotide variant |
not provided [RCV004697885] |
Chr17:42536495 [GRCh38] Chr17:40688513 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.2117A>G (p.Gln706Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004652259] |
Chr17:42544123 [GRCh38] Chr17:40696141 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1573A>T (p.Met525Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004652260] |
Chr17:42543579 [GRCh38] Chr17:40695597 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.1963A>T (p.Ile655Phe) |
single nucleotide variant |
not specified [RCV004701093] |
Chr17:42543969 [GRCh38] Chr17:40695987 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_000263.4(NAGLU):c.630G>C (p.Trp210Cys) |
single nucleotide variant |
not provided [RCV004771150] |
Chr17:42538437 [GRCh38] Chr17:40690455 [GRCh37] Chr17:17q21.2 |
uncertain significance |
GRCh37/hg19 17q12-22(chr17:41196270-41277589) |
copy number loss |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] |
Chr17:41196270..41277589 [GRCh37] Chr17:17q12-22 |
pathogenic |
NM_000263.4(NAGLU):c.1851G>C (p.Leu617Phe) |
single nucleotide variant |
not specified [RCV004766571] |
Chr17:42543857 [GRCh38] Chr17:40695875 [GRCh37] Chr17:17q21.2 |
uncertain significance |