ClinVar Miner

List of variants in gene GNPTAB reported as likely pathogenic for Mucolipidosis type II; Pseudo-Hurler polydystrophy

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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001 0.00002
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=) rs281865025 0.00002
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654 0.00001
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980 0.00001
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn) rs750240374 0.00001
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr) rs281864947 0.00001
NM_024312.5(GNPTAB):c.637-6T>G rs750793712 0.00001
NC_000012.11:g.(?_102140932)_(102155551_?)del
NC_000012.11:g.(?_102158416)_(102185374_?)del
NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu) rs281864970
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs) rs748809942
NM_024312.5(GNPTAB):c.1021_1023del (p.Pro341del) rs1060499679
NM_024312.5(GNPTAB):c.1032del (p.Asn345fs) rs1555270321
NM_024312.5(GNPTAB):c.1113+1G>T
NM_024312.5(GNPTAB):c.1114-2A>G rs2137123738
NM_024312.5(GNPTAB):c.1114-8_1119del rs2137123733
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)
NM_024312.5(GNPTAB):c.1154C>A (p.Ser385Ter)
NM_024312.5(GNPTAB):c.117+1G>T rs1324141092
NM_024312.5(GNPTAB):c.1284+1G>T rs1256349457
NM_024312.5(GNPTAB):c.137del (p.Arg46fs)
NM_024312.5(GNPTAB):c.1389_1390del (p.Trp463_Asp464delinsTer) rs1555270066
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.1479G>A (p.Trp493Ter)
NM_024312.5(GNPTAB):c.1479del (p.Trp493fs)
NM_024312.5(GNPTAB):c.1492G>T (p.Gly498Ter) rs1953090856
NM_024312.5(GNPTAB):c.1528del (p.Ala510fs)
NM_024312.5(GNPTAB):c.1538G>A (p.Trp513Ter)
NM_024312.5(GNPTAB):c.1612+1G>A rs1566075180
NM_024312.5(GNPTAB):c.1613-1G>C
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.1633A>T (p.Lys545Ter) rs1953073126
NM_024312.5(GNPTAB):c.1677del (p.Gly560fs)
NM_024312.5(GNPTAB):c.1678_1679insAGACA (p.Gly560fs)
NM_024312.5(GNPTAB):c.1693del (p.Tyr565fs)
NM_024312.5(GNPTAB):c.1699_1700insAGAGACAG (p.Ser567fs)
NM_024312.5(GNPTAB):c.1760G>A (p.Arg587Gln)
NM_024312.5(GNPTAB):c.1780A>T (p.Lys594Ter) rs1953069110
NM_024312.5(GNPTAB):c.184G>T (p.Gly62Ter) rs1869312458
NM_024312.5(GNPTAB):c.1882C>T (p.Gln628Ter) rs1953067028
NM_024312.5(GNPTAB):c.1888del (p.Thr630fs)
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1954_1955del (p.Leu652fs)
NM_024312.5(GNPTAB):c.2009_2010del (p.Pro670fs)
NM_024312.5(GNPTAB):c.2010del (p.Glu672fs)
NM_024312.5(GNPTAB):c.203+1G>A
NM_024312.5(GNPTAB):c.203+2T>C rs1594242785
NM_024312.5(GNPTAB):c.204-1G>C rs748389002
NM_024312.5(GNPTAB):c.204-2A>G
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2054C>A (p.Ser685Ter)
NM_024312.5(GNPTAB):c.2102C>A (p.Ser701Ter) rs1953060930
NM_024312.5(GNPTAB):c.2129_2135del (p.Ser710fs) rs1953060183
NM_024312.5(GNPTAB):c.2198C>A (p.Ser733Ter) rs1953059037
NM_024312.5(GNPTAB):c.2211del (p.Arg737fs)
NM_024312.5(GNPTAB):c.2219_2220del (p.Leu740fs)
NM_024312.5(GNPTAB):c.2251C>T (p.Gln751Ter) rs1566073911
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer) rs281864992
NM_024312.5(GNPTAB):c.2285T>A (p.Leu762Ter)
NM_024312.5(GNPTAB):c.2317_2318del (p.Ser773fs)
NM_024312.5(GNPTAB):c.2358_2370del (p.Gln786fs)
NM_024312.5(GNPTAB):c.2369_2370del (p.Phe790fs) rs1060499685
NM_024312.5(GNPTAB):c.2401_2402delinsAACC (p.Asp801fs)
NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu) rs281864953
NM_024312.5(GNPTAB):c.24_28del (p.Arg8fs)
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2550_2554dup (p.Ile852fs) rs281864996
NM_024312.5(GNPTAB):c.2614del (p.Val872fs) rs1060499681
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs) rs752874974
NM_024312.5(GNPTAB):c.2675dup (p.Leu892fs) rs1555269488
NM_024312.5(GNPTAB):c.2682G>A (p.Trp894Ter) rs779927550
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.2731A>T (p.Lys911Ter) rs1953000660
NM_024312.5(GNPTAB):c.2761A>T (p.Lys921Ter) rs1952999818
NM_024312.5(GNPTAB):c.2794_2796delinsTT (p.Ala932fs)
NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr) rs281865004
NM_024312.5(GNPTAB):c.2908C>T (p.Gln970Ter) rs1952995212
NM_024312.5(GNPTAB):c.2915+1G>A rs1952995034
NM_024312.5(GNPTAB):c.2947_2954dup (p.Arg986fs) rs1555269154
NM_024312.5(GNPTAB):c.2953_2954delinsA (p.Val985fs) rs1952989955
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His) rs776312538
NM_024312.5(GNPTAB):c.295C>T (p.Gln99Ter) rs1868886361
NM_024312.5(GNPTAB):c.2985_2989del (p.Phe995fs) rs1952988642
NM_024312.5(GNPTAB):c.2991T>A (p.Tyr997Ter)
NM_024312.5(GNPTAB):c.2995del (p.Tyr999fs)
NM_024312.5(GNPTAB):c.3016C>T (p.Gln1006Ter) rs1952987753
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly) rs281865007
NM_024312.5(GNPTAB):c.3082A>T (p.Arg1028Ter) rs1952986419
NM_024312.5(GNPTAB):c.3134_3135+8delinsCGTTAAGTAGATT
NM_024312.5(GNPTAB):c.3136-1G>A rs1952971551
NM_024312.5(GNPTAB):c.3165_3168del (p.Asn1056fs)
NM_024312.5(GNPTAB):c.323+1G>A rs2137150067
NM_024312.5(GNPTAB):c.324-2A>G
NM_024312.5(GNPTAB):c.3250-10_3335+112dup rs1555268712
NM_024312.5(GNPTAB):c.3250-16_3335+104dup rs1952918542
NM_024312.5(GNPTAB):c.3250-1_3250delinsAT rs1060499687
NM_024312.5(GNPTAB):c.3250-2A>G rs875989952
NM_024312.5(GNPTAB):c.3254dup (p.Val1086fs)
NM_024312.5(GNPTAB):c.3271_3272del (p.Val1091fs)
NM_024312.5(GNPTAB):c.3294_3297del (p.Asp1099fs)
NM_024312.5(GNPTAB):c.3301dup (p.Ile1101fs)
NM_024312.5(GNPTAB):c.3307_3318delinsCAGTAACT (p.Lys1103_Lys1106delinsGlnTer) rs1952921914
NM_024312.5(GNPTAB):c.3336-1G>A rs397507562
NM_024312.5(GNPTAB):c.3449del (p.Leu1150fs) rs1060499684
NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe) rs1060499689
NM_024312.5(GNPTAB):c.3541C>T (p.Gln1181Ter) rs1257678960
NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser) rs1060499688
NM_024312.5(GNPTAB):c.3602+2T>A rs1952850476
NM_024312.5(GNPTAB):c.3602G>A (p.Trp1201Ter) rs1952850511
NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter) rs1555267839
NM_024312.5(GNPTAB):c.366-2A>G rs1555271868
NM_024312.5(GNPTAB):c.378dup (p.Glu127fs) rs1555271865
NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter) rs1555277081
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.45_49del (p.His16fs)
NM_024312.5(GNPTAB):c.542C>G (p.Ser181Ter) rs756660023
NM_024312.5(GNPTAB):c.56_57del (p.Gly19fs)
NM_024312.5(GNPTAB):c.571+1G>A rs1412230289
NM_024312.5(GNPTAB):c.571+4A>T rs1868618470
NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile) rs751953529
NM_024312.5(GNPTAB):c.598A>T (p.Lys200Ter) rs1953327561
NM_024312.5(GNPTAB):c.599_600del (p.Lys200fs)
NM_024312.5(GNPTAB):c.635T>A (p.Leu212Ter) rs1953326710
NM_024312.5(GNPTAB):c.636+1G>A rs746175107
NM_024312.5(GNPTAB):c.637-1G>A rs281864962
NM_024312.5(GNPTAB):c.637-1del
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.680T>A (p.Leu227Ter) rs1953321606
NM_024312.5(GNPTAB):c.694G>T (p.Gly232Ter)
NM_024312.5(GNPTAB):c.699_700insGTTT (p.Pro234fs)
NM_024312.5(GNPTAB):c.712A>T (p.Lys238Ter) rs1953321100
NM_024312.5(GNPTAB):c.724C>T (p.Gln242Ter)
NM_024312.5(GNPTAB):c.733del (p.Thr245fs)
NM_024312.5(GNPTAB):c.745G>T (p.Glu249Ter)
NM_024312.5(GNPTAB):c.771+1G>C rs1555271217
NM_024312.5(GNPTAB):c.771+2T>A rs1555271215
NM_024312.5(GNPTAB):c.772-1G>C rs2137125146
NM_024312.5(GNPTAB):c.772-1G>T
NM_024312.5(GNPTAB):c.772-2_786del
NM_024312.5(GNPTAB):c.804del (p.Leu268_Leu269insTer) rs1555270428
NM_024312.5(GNPTAB):c.880G>T (p.Glu294Ter) rs1953165554
NM_024312.5(GNPTAB):c.933+1G>A
NM_024312.5(GNPTAB):c.933+1G>T rs1327876395
NM_024312.5(GNPTAB):c.993C>A (p.Tyr331Ter) rs1953155445
NM_024312.5(GNPTAB):c.998T>A (p.Leu333Ter)

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