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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:24707696-41886350
GRCh38:
Chr1:24381206-41401517
A3GALT2, ADGRB2, ADPRS, AGO1, AGO3, AGO4, AHDC1, AK2, AKIRIN1, ARID1A, ATP5IF1, AUNIP, AZIN2, BMP8A, BMP8B, BSDC1, C1orf109, C1orf122, C1orf216, C1orf232, C1orf94, CAP1, CATSPER4, CCDC28B, CD164L2, CD52, CDCA8, CEP85, CITED4, CLIC4, CLSPN, CNKSR1, COL16A1, COL8A2, COL9A2, CRYBG2, CSF3R, CSMD2, CSMD2-AS1, CTPS1, DCDC2B, DHDDS, DHDDS-AS1, DLGAP3, DNAJC8, DNALI1, EIF3I, EPB41, EPHA10, EVA1B, EXO5, EXO5-DT, EXTL1, EYA3, FABP3, FAM110D, FAM167B, FAM229A, FAM76A, FCN3, FGR, FHL3, FNDC5, FOXO6, FOXO6-AS1, GJA4, GJA9, GJA9-MYCBP, GJB3, GJB4, GJB5, GMEB1, GNL2, GPATCH3, GPN2, GPR199P, GPR3, GRIK3, HCRTR1, HDAC1, HEYL, HMGB4, HMGN2, HPCA, HPCAL4, IFI6, INPP5B, IQCC, KCNQ4, KDF1, KHDRBS1, KIAA0319L, KIAA0754, KIAA1522, KPNA6, LAPTM5, LCK, LDLRAP1, LIN28A, LINC01226, LINC01343, LINC01648, LINC01685, LINC01756, LINC01778, LINC02574, LOC101928728, LOC101929536, LOC105378663, LOC107988049, LOC108254669, LOC109851610, LOC110120621, LOC110120729, LOC110120958, LOC110120969, LOC110121002, LOC110121088, LOC110121139, LOC110121256, LOC110121289, LOC110594336, LOC111464991, LOC111501765, LOC111828505, LOC112577564, LOC112577570, LOC112577571, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC112577576, LOC112577577, LOC112577582, LOC112577583, LOC112577584, LOC112577585, LOC112577586, LOC112577587, LOC112577588, LOC112577589, LOC112577590, LOC112577591, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC112590790, LOC113939988, LOC114803468, LOC115801417, LOC115801418, LOC115801419, LOC115801420, LOC115801421, LOC115801422, LOC115801423, LOC115801424, LOC115801425, LOC120766157, LOC120893124, LOC120893125, LOC120893126, LOC120893127, LOC120893128, LOC120893129, LOC120893130, LOC120893131, LOC120893132, LOC646471, LSM10, MACF1, MACO1, MAN1C1, MANEAL, MAP3K6, MAP7D1, MARCKSL1, MATN1, MATN1-AS1, MEAF6, MECR, MED18, MFSD2A, MIR1976, MIR30C1, MIR30E, MIR3605, MIR3659, MIR3659HG, MIR3917, MIR4254, MIR4255, MIR4420, MIR4425, MIR552, MIR5581, MIR5585, MIR6731, MIR6732, MRPS15, MTF1, MTFR1L, MYCBP, MYCL, MYCL-AS1, NCDN, NCMAP, NCMAP-DT, NDUFS5, NFYC, NFYC-AS1, NIPAL3, NKAIN1, NR0B2, NT5C1A, NUDC, OPRD1, OSCP1, OXCT2, PABPC4, PABPC4-AS1, PAFAH2, PAQR7, PDIK1L, PEF1, PEF1-AS1, PHACTR4, PHC2, PHC2-AS1, PIGV, POU3F1, PPIE, PPP1R8, PPT1, PSMB2, PTAFR, PTP4A2, PTPRU, PUM1, RAB42, RBBP4, RCAN3, RCAN3AS, RCC1, RHBDL2, RHCE, RHD, RIMS3, RLF, RNF19B, RNU11, RPA2, RPS6KA1, RRAGC, RSPO1, RSRP1, RUNX3, RUNX3-AS1, S100PBP, SCARNA1, SCMH1, SDC3, SELENON, SERINC2, SESN2, SF3A3, SFN, SFPQ, SH3BGRL3, SH3D21, SLC30A2, SLC9A1, SLFNL1, SLFNL1-AS1, SMAP2, SMIM12, SMPDL3B, SNHG12, SNHG3, SNIP1, SNORA16A, SNORA44, SNORA55, SNORA61, SNORA63C, SNORA73A, SNORA73B, SNORD103A, SNORD103B, SNORD103C, SNORD99, SNRNP40, SPOCD1, SRRM1, SRSF4, STK40, STMN1, STPG1, STX12, SYF2, SYNC, SYTL1, TAF12, TAF12-DT, TEKT2, TENT5B, TFAP2E, TFAP2E-AS1, THEMIS2, THRAP3, TINAGL1, TMCO2, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM54, TRAPPC3, TRIM62, TRIM63, TRIT1, TRNAU1AP, TRNP1, TSSK3, TXLNA, UBXN11, UTP11, WASF2, WDTC1, WDTC1-DT, XKR8, YARS1, YRDC, YTHDF2, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZC3H12A-DT, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM4-AS1, ZMYM6, ZNF362, ZNF593, ZNF683, ZNF684, ZPLD2P, ZSCAN20
See casesPathogenic
(Jun 1, 2012)
no assertion criteria providedVCV000149963
2.
GRCh37:
Chr1:38574337-42793222
GRCh38:
Chr1:38108665-42327551
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059934
3.
GRCh37:
Chr1:38688409-46101848
GRCh38:
Chr1:38222737-45636176
LOC110121214, LOC110121256, LOC111464991, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC112590790, LOC112590791, LOC112590792, LOC112590793, LOC112590794, LOC112590795, LOC112590799, LOC112590800, LOC114803468, LOC115801425, LOC120893131, LOC120893132, LOC120893133, ATP6V0B, BMP8B, CDC20, PLK3, COL9A2, CTPS1, DPH2, EDN2, GUCA2A, GUCA2B, MPL, MUTYH, MYCL, NASP, NDUFS5, NFYC, YBX1, PRDX1, PPT1, PTPRF, RLF, RPS8, ST3GAL3, SLC2A1, SLC6A9, TIE1, UROD, PTCH2, B4GALT2, PABPC4, EIF2B3, ARTN, KCNQ4, IPO13, KDM4A, RIMS3, ZMPSTE24, AKR1A1, TESK2, PPIE, PPIH, CAP1, EBNA1BP2, KIF2C, FOXJ3, SCMH1, SZT2, MACF1, MMACHC, MYCBP, HEYL, SNORD55, RNU5F-1, RNU5D-1, ZNF691, HPCAL4, TRIT1, RHBDL2, RNF220, DMAP1, ZSWIM5, HIVEP3, GPBP1L1, OXCT2, RRAGC, P3H1, SMAP2, EXO5, ELOVL1, ZFP69B, ERI3, C1orf50, TMEM53, AKIRIN1, HECTD3, PPCS, GJA9, HYI, ZMYND12, NT5C1A, HPDL, MFSD2A, SNORD46, SNORD38A, SNORD38B, MED8, TOE1, ERMAP, CCDC163, TMCO2, ZNF684, KLF17, TMEM125, CLDN19, CFAP57, C1orf210, CCDC24, BTBD19, CCDC17, CITED4, SLFNL1, BEST4, RIMKLA, LOC339539, ARMH1, ZFP69, DYNLT4, BMP8A, SVBP, LINC01144, MIR30C1, MIR30E, SLC2A1-AS1, FAM183A, KIAA0754, SNORA55, CCDC30, TMEM269, NFYC-AS1, FOXO6, KDM4A-AS1, SLFNL1-AS1, GJA9-MYCBP, MIR5584, SZT2-AS1, ERI3-IT1, PABPC4-AS1, LOC101929536, ST3GAL3-AS1, FOXO6-AS1, MIR6079, MIR6733, MIR6735, MIR6734, LINC01685, LOC105378663, MYCL-AS1, EXO5-DT, TMEM269-DT, CDC20-DT, KLF18, SNORA110, SNORD145, SNORD160, LOC110120642, LOC110120644, LOC110120958, LOC110120969, LOC110121002, LOC110121139
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058060
4.
GRCh37:
Chr1:39826419-41366489
GRCh38:
Chr1:39360747-40900817
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058072
5.
GRCh37:
Chr1:40538432-40538433
GRCh38:
Chr1:40072760-40072761
PPT1Neuronal Ceroid-Lipofuscinosis, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297212
6.
GRCh37:
Chr1:40538438
GRCh38:
Chr1:40072766
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297213
7.
GRCh37:
Chr1:40538442-40538444
GRCh38:
Chr1:40072770-40072772
PPT1Neuronal Ceroid-Lipofuscinosis, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297214
8.
GRCh37:
Chr1:40538458
GRCh38:
Chr1:40072786
PPT1Neuronal ceroid lipofuscinosis 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000297215
9.
GRCh37:
Chr1:40538579
GRCh38:
Chr1:40072907
PPT1Neuronal ceroid lipofuscinosis 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000297216
10.
GRCh37:
Chr1:40538645
GRCh38:
Chr1:40072973
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297217
11.
GRCh37:
Chr1:40538671
GRCh38:
Chr1:40072999
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000297218
12.
GRCh37:
Chr1:40538672
GRCh38:
Chr1:40073000
PPT1Neuronal ceroid lipofuscinosis 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000874944
13.
GRCh37:
Chr1:40538714
GRCh38:
Chr1:40073042
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000297219
14.
GRCh37:
Chr1:40538735
GRCh38:
Chr1:40073063
PPT1Neuronal Ceroid-Lipofuscinosis, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297220
15.
GRCh37:
Chr1:40538742
GRCh38:
Chr1:40073070
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874945
16.
GRCh37:
Chr1:40538764
GRCh38:
Chr1:40073092
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297221
17.
GRCh37:
Chr1:40538819
GRCh38:
Chr1:40073147
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874946
18.
GRCh37:
Chr1:40538823
GRCh38:
Chr1:40073151
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297222
19.
GRCh37:
Chr1:40538832
GRCh38:
Chr1:40073160
PPT1Neuronal ceroid lipofuscinosis 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000875872
20.
GRCh37:
Chr1:40538855
GRCh38:
Chr1:40073183
PPT1Neuronal ceroid lipofuscinosis 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000297223
21.
GRCh37:
Chr1:40538921
GRCh38:
Chr1:40073249
PPT1Neuronal Ceroid-Lipofuscinosis, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297224
22.
GRCh37:
Chr1:40538922
GRCh38:
Chr1:40073250
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297225
23.
GRCh37:
Chr1:40538931
GRCh38:
Chr1:40073259
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297226
24.
GRCh37:
Chr1:40538952
GRCh38:
Chr1:40073280
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000297227
25.
GRCh37:
Chr1:40539006
GRCh38:
Chr1:40073334
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875873
26.
GRCh37:
Chr1:40539024
GRCh38:
Chr1:40073352
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297228
27.
GRCh37:
Chr1:40539025
GRCh38:
Chr1:40073353
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875874
28.
GRCh37:
Chr1:40539032
GRCh38:
Chr1:40073360
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000876873
29.
GRCh37:
Chr1:40539054
GRCh38:
Chr1:40073382
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297229
30.
GRCh37:
Chr1:40539076
GRCh38:
Chr1:40073404
PPT1Neuronal ceroid lipofuscinosis 1, not providedBenign
(May 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000297230
31.
GRCh37:
Chr1:40539150
GRCh38:
Chr1:40073478
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000297231
32.
GRCh37:
Chr1:40539165
GRCh38:
Chr1:40073493
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000297232
33.
GRCh37:
Chr1:40539200-40539201
GRCh38:
Chr1:40073528-40073529
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Sep 21, 2017)
criteria provided, single submitterVCV000554008
34.
GRCh37:
Chr1:40539203-40539204
GRCh38:
Chr1:40073531-40073532
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Dec 6, 2017)
criteria provided, single submitterVCV000555485
35.
GRCh37:
Chr1:40539203-40539204
GRCh38:
Chr1:40073531-40073532
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jun 20, 2017)
criteria provided, single submitterVCV000552533
36.
GRCh37:
Chr1:40539203-40539204
GRCh38:
Chr1:40073531-40073532
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Mar 7, 2017)
criteria provided, single submitterVCV000551002
37.
GRCh37:
Chr1:40539203-40539204
GRCh38:
Chr1:40073531-40073532
PPT1not provided, Neuronal Ceroid-Lipofuscinosis, RecessiveBenign
(May 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000297233
38.
GRCh37:
Chr1:40539204-40539207
GRCh38:
Chr1:40073532-40073535
PPT1Neuronal ceroid lipofuscinosis 1Likely pathogenicno assertion criteria providedVCV000056142
39.
GRCh37:
Chr1:40539228
GRCh38:
Chr1:40073556
PPT1Neuronal ceroid lipofuscinosis 1, not providedBenign
(May 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000297234
40.
GRCh37:
Chr1:40539249
GRCh38:
Chr1:40073577
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000297235
41.
GRCh37:
Chr1:40539259
GRCh38:
Chr1:40073587
PPT1Neuronal Ceroid-Lipofuscinosis, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000297236
42.
GRCh37:
Chr1:40539263
GRCh38:
Chr1:40073591
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000874071
43.
GRCh37:
Chr1:40539277
GRCh38:
Chr1:40073605
PPT1Neuronal ceroid lipofuscinosis 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000297237
44.
GRCh37:
Chr1:40539345
GRCh38:
Chr1:40073673
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000297238
45.
GRCh37:
Chr1:40539380
GRCh38:
Chr1:40073708
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000874072
46.
GRCh37:
Chr1:40539393
GRCh38:
Chr1:40073721
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000297239
47.
GRCh37:
Chr1:40539448
GRCh38:
Chr1:40073776
PPT1Neuronal ceroid lipofuscinosis 1, not providedBenign
(Jun 18, 2018)
criteria provided, multiple submitters, no conflictsVCV000297240
48.
GRCh37:
Chr1:40539481
GRCh38:
Chr1:40073809
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297241
49.
GRCh37:
Chr1:40539572
GRCh38:
Chr1:40073900
PPT1Neuronal ceroid lipofuscinosis 1, not providedBenign
(Jun 19, 2018)
criteria provided, multiple submitters, no conflictsVCV000297242
50.
GRCh37:
Chr1:40539606
GRCh38:
Chr1:40073934
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000875000
51.
GRCh37:
Chr1:40539643
GRCh38:
Chr1:40073971
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000297243
52.
GRCh37:
Chr1:40539713-40562930
GRCh38:
Chr1:40074041-40097258
PPT1Neuronal ceroid lipofuscinosis 1Uncertain significance
(Nov 27, 2017)
criteria provided, single submitterVCV000533956
53.
GRCh37:
Chr1:40539721
GRCh38:
Chr1:40074049
PPT1not specifiedBenign
(Jan 24, 2014)
criteria provided, single submitterVCV000138795
54.
GRCh37:
Chr1:40539727
GRCh38:
Chr1:40074055
PPT1Neuronal ceroid lipofuscinosis 1, not provided, not specified
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000204600
55.
GRCh37:
Chr1:40539730
GRCh38:
Chr1:40074058
PPT1History of neurodevelopmental disorder, not specified, Neuronal ceroid lipofuscinosis 1,
Neuronal ceroid lipofuscinosis
Conflicting interpretations of pathogenicity
(May 18, 2021)
criteria provided, conflicting interpretationsVCV000138793
56.
GRCh37:
Chr1:40539740
GRCh38:
Chr1:40074068
PPT1L305R, L202R, L281RNeuronal ceroid lipofuscinosis 1Uncertain significance
(Jan 27, 2020)
criteria provided, single submitterVCV000533949
57.
GRCh37:
Chr1:40539740
GRCh38:
Chr1:40074068
PPT1L202P, L305P, L281PNeuronal ceroid lipofuscinosis 1Likely pathogenicno assertion criteria providedVCV000056220
58.
GRCh37:
Chr1:40539744
GRCh38:
Chr1:40074072
PPT1F201L, F280L, F304LNeuronal ceroid lipofuscinosis 1Uncertain significance
(Mar 18, 2020)
criteria provided, single submitterVCV001010510
59.
GRCh37:
Chr1:40539745
GRCh38:
Chr1:40074073
PPT1Neuronal ceroid lipofuscinosis 1Likely benign
(Jun 7, 2019)
criteria provided, single submitterVCV000748017
60.
GRCh37:
Chr1:40539746
GRCh38:
Chr1:40074074
PPT1P200L, P279L, P303LNeuronal ceroid lipofuscinosis 1Uncertain significance
(May 21, 2019)
criteria provided, single submitterVCV000836128
61.
GRCh37:
Chr1:40539750
GRCh38:
Chr1:40074078
PPT1I302V, I278V, I199VNeuronal ceroid lipofuscinosis 1, History of neurodevelopmental disorder, Intellectual disability,
not specified, not provided
Conflicting interpretations of pathogenicity
(Dec 8, 2020)
criteria provided, conflicting interpretationsVCV000199009
62.
GRCh37:
Chr1:40539752
GRCh38:
Chr1:40074080
PPT1I277N, I198N, I301NNeuronal ceroid lipofuscinosis 1Uncertain significance
(Jun 3, 2020)
criteria provided, single submitterVCV001030730
63.
GRCh37:
Chr1:40539757
GRCh38:
Chr1:40074085
PPT1Neuronal ceroid lipofuscinosis 1Likely benign
(Apr 6, 2019)
criteria provided, single submitterVCV001117796
64.
GRCh37:
Chr1:40539758
GRCh38:
Chr1:40074086
PPT1A299V, A196V, A275VNeuronal ceroid lipofuscinosis 1Uncertain significance
(Apr 7, 2019)
criteria provided, single submitterVCV000852229
65.
GRCh37:
Chr1:40539760
GRCh38:
Chr1:40074088
PPT1Neuronal ceroid lipofuscinosis 1Conflicting interpretations of pathogenicity
(Jan 5, 2020)
criteria provided, conflicting interpretationsVCV000875001
66.
GRCh37:
Chr1:40539766
GRCh38:
Chr1:40074094
PPT1W193*, W296*, W272*Neuronal ceroid lipofuscinosis 1Likely pathogenicno assertion criteria providedVCV000056219
67.
GRCh37:
Chr1:40539768
GRCh38:
Chr1:40074096
PPT1W193R, W296R, W272RNeuronal ceroid lipofuscinosis 1Likely pathogenicno assertion criteria providedVCV000056218
68.
GRCh37:
Chr1:40539776
GRCh38:
Chr1:40074104
PPT1S190F, S293F, S269FNeuronal ceroid lipofuscinosis 1Uncertain significance
(Sep 17, 2019)
criteria provided, single submitterVCV000954949
69.
GRCh37:
Chr1:40539777
GRCh38:
Chr1:40074105
PPT1S190P, S269P, S293PNeuronal ceroid lipofuscinosis 1Uncertain significance
(Sep 4, 2020)
no assertion criteria providedVCV000991803
70.
GRCh37:
Chr1:40539779
GRCh38:
Chr1:40074107
PPT1L292S, L189S, L268SNeuronal ceroid lipofuscinosis 1Uncertain significance
(Jul 9, 2019)
criteria provided, single submitterVCV000533951
71.
GRCh37:
Chr1:40539783
GRCh38:
Chr1:40074111
PPT1Q188*, Q291*, Q267*Neuronal ceroid lipofuscinosis 1Pathogenic
(May 2, 2019)
criteria provided, single submitterVCV000056217
72.
GRCh37:
Chr1:40539798
GRCh38:
Chr1:40074126
PPT1E286K, E262K, E183KNeuronal ceroid lipofuscinosis 1Uncertain significance
(Nov 8, 2018)
criteria provided, single submitterVCV000660378
73.
GRCh37:
Chr1:40539804
GRCh38:
Chr1:40074132
PPT1A284P, A181P, A260PNeuronal ceroid lipofuscinosis 1Uncertain significance
(Aug 26, 2019)
criteria provided, single submitterVCV000862412
74.
GRCh37:
Chr1:40539811
GRCh38:
Chr1:40074139
PPT1Neuronal ceroid lipofuscinosis 1Likely benign
(Feb 14, 2020)
criteria provided, single submitterVCV001116592
75.
GRCh37:
Chr1:40539814
GRCh38:
Chr1:40074142
PPT1not provided, Neuronal ceroid lipofuscinosis 1Likely benign
(Mar 1, 2018)
criteria provided, single submitterVCV000748131
76.
GRCh37:
Chr1:40539817
GRCh38:
Chr1:40074145
PPT1Q279H, Q176H, Q255HHistory of neurodevelopmental disorder, not specified, not provided,
Neuronal ceroid lipofuscinosis 1
Benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000130023
77.
GRCh37:
Chr1:40539819
GRCh38:
Chr1:40074147
PPT1Q279*, Q176*, Q255*Neuronal ceroid lipofuscinosis 1Likely pathogenic
(Apr 18, 2017)
criteria provided, single submitterVCV000551569
78.
GRCh37:
Chr1:40539822
GRCh38:
Chr1:40074150
PPT1G254R, G278R, G175RNeuronal ceroid lipofuscinosis 1Uncertain significance
(Sep 25, 2019)
criteria provided, single submitterVCV000972558
79.
GRCh37:
Chr1:40539832
GRCh38:
Chr1:40074160
PPT1M171I, M274I, M250INeuronal ceroid lipofuscinosis 1Uncertain significance
(Jul 21, 2020)
criteria provided, single submitterVCV001035086
80.
GRCh37:
Chr1:40539832-40539833
GRCh38:
Chr1:40074160-40074161
PPT1M171fs, M250fs, M274fsNeuronal ceroid lipofuscinosis 1Likely pathogenic
(Feb 29, 2016)
criteria provided, single submitterVCV000370544
81.
GRCh37:
Chr1:40539837
GRCh38:
Chr1:40074165
PPT1E273K, E170K, E249KNeuronal ceroid lipofuscinosis 1Uncertain significance
(Aug 21, 2020)
criteria provided, single submitterVCV000533955
82.
GRCh37:
Chr1:40539844
GRCh38:
Chr1:40074172
PPT1Neuronal ceroid lipofuscinosis 1Likely benign
(Jul 11, 2019)
criteria provided, single submitterVCV000465419
83.
GRCh37:
Chr1:40539844
GRCh38:
Chr1:40074172
PPT1Neuronal ceroid lipofuscinosis 1, not providedConflicting interpretations of pathogenicity
(Jun 26, 2020)
criteria provided, conflicting interpretationsVCV000416009
84.
GRCh37:
Chr1:40539844
GRCh38:
Chr1:40074172
PPT1not providedPathogenic
(Feb 26, 2015)
criteria provided, single submitterVCV000199010
85.
GRCh37:
Chr1:40539851
GRCh38:
Chr1:40074179
PPT1R268H, R165H, R244HNeuronal ceroid lipofuscinosis 1, History of neurodevelopmental disorderUncertain significance
(Nov 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000588549
86.
GRCh37:
Chr1:40539852
GRCh38:
Chr1:40074180
PPT1R268C, R244C, R165CNeuronal ceroid lipofuscinosis 1, not providedUncertain significance
(Mar 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000449662
87.
GRCh37:
Chr1:40539855
GRCh38:
Chr1:40074183
PPT1Neuronal ceroid lipofuscinosis 1Likely pathogenic
(Mar 7, 2019)
criteria provided, single submitterVCV000863395
88.
GRCh37:
Chr1:40539857
GRCh38:
Chr1:40074185
PPT1Neuronal ceroid lipofuscinosis 1Likely pathogenic
(Jul 31, 2017)
criteria provided, single submitterVCV000552968
89.
GRCh37:
Chr1:40539874
GRCh38:
Chr1:40074202
PPT1not specified, not providedBenign
(May 1, 2014)
criteria provided, single submitterVCV000138792
90.
GRCh37:
Chr1:40540037-40540040
GRCh38:
Chr1:40074365-40074368
PPT1not providedLikely benign
(Aug 11, 2019)
criteria provided, single submitterVCV001201976
91.
GRCh37:
Chr1:40540102
GRCh38:
Chr1:40074430
PPT1not providedBenign
(Aug 10, 2019)
criteria provided, single submitterVCV001295448
92.
GRCh37:
Chr1:40540142-40540145
GRCh38:
Chr1:40074470-40074473
PPT1not providedLikely benign
(Aug 10, 2019)
criteria provided, single submitterVCV001199134
93.
GRCh37:
Chr1:40540142-40540143
GRCh38:
Chr1:40074470-40074471
PPT1not providedLikely benign
(Oct 2, 2019)
criteria provided, single submitterVCV001180076
94.
GRCh37:
Chr1:40540144-40540147
GRCh38:
Chr1:40074472-40074475
PPT1not providedBenign
(Aug 10, 2019)
criteria provided, single submitterVCV001256797
95.
GRCh37:
Chr1:40540185
GRCh38:
Chr1:40074513
PPT1not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000671072
96.
GRCh37:
Chr1:40542290
GRCh38:
Chr1:40076618
PPT1not providedLikely benign
(Aug 17, 2018)
criteria provided, single submitterVCV001189145
97.
GRCh37:
Chr1:40542495
GRCh38:
Chr1:40076823
PPT1not providedBenign
(Sep 9, 2015)
criteria provided, single submitterVCV001249212
98.
GRCh37:
Chr1:40542498
GRCh38:
Chr1:40076826
PPT1not specifiedLikely benign
(Nov 10, 2017)
criteria provided, single submitterVCV000513341
99.
GRCh37:
Chr1:40542506
GRCh38:
Chr1:40076834
PPT1Neuronal ceroid lipofuscinosis 1, not specifiedBenign/Likely benign
(Nov 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000206628
100.
GRCh37:
Chr1:40542512
GRCh38:
Chr1:40076840
PPT1Neuronal ceroid lipofuscinosis 1Likely pathogenic
(May 17, 2018)
criteria provided, single submitterVCV000558381
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