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Links from MedGen

Items: 92

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr15:68506647
GRCh38:
Chr15:68214309
CLN6T125K, T93KCeroid lipofuscinosis, neuronal, 6APathogeniccriteria provided, single submitter
2.
GRCh37:
Chr15:68510876-68510877
GRCh38:
Chr15:68218538-68218539
CLN6M66fs, M98fsCeroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type)Likely pathogenic
(Oct 3, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr15:68506628
GRCh38:
Chr15:68214290
CLN6K131N, K99NCeroid lipofuscinosis, neuronal, 6ALikely pathogenic
(Jul 1, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr15:68504177
GRCh38:
Chr15:68211839
CLN6L108fsCeroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type)Likely pathogenic
(May 17, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr15:68504113-68504114
GRCh38:
Chr15:68211775-68211776
CLN6V129fsCeroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type)Likely pathogenic
(Mar 1, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr15:68504121-68504122
GRCh38:
Chr15:68211783-68211784
CLN6I126fsCeroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type)Likely pathogenic
(Feb 17, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr15:68510914
GRCh38:
Chr15:68218576
CLN6L53RCeroid lipofuscinosis, neuronal, 6AUncertain significancecriteria provided, single submitter
8.
GRCh37:
Chr15:68500495
GRCh38:
Chr15:68208157
CLN6V307INeuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6B (Kufs type), Ceroid lipofuscinosis, neuronal, 6A
Uncertain significance
(Jul 9, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr15:68500518
GRCh38:
Chr15:68208180
CLN6P299HCeroid lipofuscinosis, neuronal, 6ALikely pathogeniccriteria provided, single submitter
10.
GRCh37:
Chr15:68506629
GRCh38:
Chr15:68214291
CLN6Inborn genetic diseases, Neuronal ceroid lipofuscinosisUncertain significance
(Oct 14, 2021)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:68506704-68506705
GRCh38:
Chr15:68214366-68214367
CLN6Ceroid lipofuscinosis, neuronal, 6APathogenic
(Dec 1, 2021)		no assertion criteria provided
12.
GRCh37:
Chr15:68500530
GRCh38:
Chr15:68208192
CLN6Y295CCeroid lipofuscinosis, neuronal, 6ALikely pathogenic
(Jul 20, 2021)		criteria provided, single submitter
13.
GRCh37:
Chr15:68503629
GRCh38:
Chr15:68211291
CLN6Y172HCeroid lipofuscinosis, neuronal, 6ALikely pathogenic
(Apr 13, 2021)		criteria provided, single submitter
14.
GRCh37:
Chr15:68504188
GRCh38:
Chr15:68211850
CLN6S104FNeuronal ceroid lipofuscinosis, not specified, Ceroid lipofuscinosis, neuronal, 6A
Conflicting interpretations of pathogenicity
(Oct 19, 2023)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr15:68500691
GRCh38:
Chr15:68208353
CLN6M241ICeroid lipofuscinosis, neuronal, 6AUncertain significance
(Feb 26, 2019)		criteria provided, single submitter
16.
GRCh37:
Chr15:68504062
GRCh38:
Chr15:68211724
CLN6L146PCeroid lipofuscinosis, neuronal, 6AUncertain significance
(Feb 21, 2020)		criteria provided, single submitter
17.
GRCh37:
Chr15:68504182
GRCh38:
Chr15:68211844
CLN6R106HNeuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6B (Kufs type), Ceroid lipofuscinosis, neuronal, 6A
Uncertain significance
(Mar 3, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr15:68506707
GRCh38:
Chr15:68214369
CLN6W73*Ceroid lipofuscinosis, neuronal, 6A, Adult neuronal ceroid lipofuscinosisLikely pathogenic
(May 2, 2019)		criteria provided, single submitter
19.
GRCh37:
Chr15:68504072
GRCh38:
Chr15:68211734
CLN6Q143*Ceroid lipofuscinosis, neuronal, 6A, Adult neuronal ceroid lipofuscinosisLikely pathogenic
(May 29, 2019)		criteria provided, single submitter
20.
GRCh37:
Chr15:68503644
GRCh38:
Chr15:68211306
CLN6E167*Ceroid lipofuscinosis, neuronal, 6A, Adult neuronal ceroid lipofuscinosisLikely pathogenic
(Mar 7, 2020)		criteria provided, single submitter
21.
GRCh37:
Chr15:68500639
GRCh38:
Chr15:68208301
CLN6G259Snot provided, Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6B (Kufs type),
Ceroid lipofuscinosis, neuronal, 6A, Inborn genetic diseases		Conflicting interpretations of pathogenicity
(Nov 17, 2022)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr15:68502053
GRCh38:
Chr15:68209715
CLN6C196FCeroid lipofuscinosis, neuronal, 6AUncertain significanceno assertion criteria provided
23.
GRCh37:
Chr15:68501981
GRCh38:
Chr15:68209643
CLN6Y220SCeroid lipofuscinosis, neuronal, 6AUncertain significance
(Jul 5, 2019)		criteria provided, single submitter
24.
GRCh37:
Chr15:68501978
GRCh38:
Chr15:68209640
CLN6Y221CCeroid lipofuscinosis, neuronal, 6A, Neuronal ceroid lipofuscinosisUncertain significance
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr15:68500697
GRCh38:
Chr15:68208359
CLN6Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Likely benign
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr15:68521840
GRCh38:
Chr15:68229502
CLN6R28KCeroid lipofuscinosis, neuronal, 6APathogenic
(Dec 30, 2017)		criteria provided, single submitter
27.
GRCh37:
Chr15:68521882
GRCh38:
Chr15:68229544
CLN6G14DCeroid lipofuscinosis, neuronal, 6A, Adult neuronal ceroid lipofuscinosis, not provided,
Neuronal ceroid lipofuscinosis		Uncertain significance
(Sep 30, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr15:68506675
GRCh38:
Chr15:68214337
CLN6Y84NCeroid lipofuscinosis, neuronal, 6APathogenicno assertion criteria provided
29.
GRCh37:
Chr15:68501978
GRCh38:
Chr15:68209640
CLN6Y221SNeuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6AConflicting interpretations of pathogenicity
(Apr 27, 2023)		criteria provided, conflicting interpretations
30.
GRCh37:
Chr15:68502087-68502088
GRCh38:
Chr15:68209749-68209750
CLN6F185fsCeroid lipofuscinosis, neuronal, 6APathogenicno assertion criteria provided
31.
GRCh37:
Chr15:68510770
GRCh38:
Chr15:68218432
CLN6not providedBenign
(Jun 25, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr15:68503644-68503645
GRCh38:
Chr15:68211306-68211307
CLN6E167*Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6APathogenic/Likely pathogenic
(Dec 28, 2021)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr15:68500644-68500648
GRCh38:
Chr15:68208306-68208310
CLN6D256fsCeroid lipofuscinosis, neuronal, 6ALikely pathogenic
(Apr 2, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr15:68521922
GRCh38:
Chr15:68229584
CLN6M1VCeroid lipofuscinosis, neuronal, 6ALikely pathogenic
(Feb 21, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr15:68500505
GRCh38:
Chr15:68208167
CLN6Y303*Ceroid lipofuscinosis, neuronal, 6AUncertain significance
(Feb 20, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr15:68500626-68500627
GRCh38:
Chr15:68208288-68208289
CLN6F263fsCeroid lipofuscinosis, neuronal, 6ALikely pathogenic
(Feb 16, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr15:68500577
GRCh38:
Chr15:68208239
CLN6W279*Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6APathogenic/Likely pathogenic
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr15:68500639
GRCh38:
Chr15:68208301
CLN6G259CCeroid lipofuscinosis, neuronal, 6AUncertain significance
(Jan 3, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr15:68503634
GRCh38:
Chr15:68211296
CLN6Y170CNeuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6AUncertain significance
(Aug 1, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr15:68500712
GRCh38:
Chr15:68208374
CLN6F234LCeroid lipofuscinosis, neuronal, 6AUncertain significance
(Dec 12, 2017)		criteria provided, single submitter
41.
GRCh37:
Chr15:68504012
GRCh38:
Chr15:68211674
CLN6Ceroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type), Inborn genetic diseases,
Ceroid lipofuscinosis, neuronal, 6A, Neuronal ceroid lipofuscinosis		Likely pathogenic
(Dec 12, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr15:68510888
GRCh38:
Chr15:68218550
CLN6R62CNeuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6AConflicting interpretations of pathogenicity
(May 14, 2022)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr15:68503600
GRCh38:
Chr15:68211262
CLN6Ceroid lipofuscinosis, neuronal, 6ALikely pathogenic
(Oct 6, 2017)		criteria provided, single submitter
44.
GRCh37:
Chr15:68504126
GRCh38:
Chr15:68211788
CLN6S125GNeuronal ceroid lipofuscinosis, not specified, Ceroid lipofuscinosis, neuronal, 6A
Uncertain significance
(Dec 2, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr15:68503637
GRCh38:
Chr15:68211299
CLN6L169PCeroid lipofuscinosis, neuronal, 6AUncertain significance
(May 19, 2017)		criteria provided, single submitter
46.
GRCh37:
Chr15:68502097
GRCh38:
Chr15:68209759
CLN6W181*Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6APathogenic/Likely pathogenic
(May 22, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:68521838
GRCh38:
Chr15:68229500
CLN6Ceroid lipofuscinosis, neuronal, 6ALikely pathogenic
(Apr 12, 2017)		criteria provided, single submitter
48.
GRCh37:
Chr15:68500518
GRCh38:
Chr15:68208180
CLN6P299LCeroid lipofuscinosis, neuronal, 6B (Kufs type), Ceroid lipofuscinosis, neuronal, 6A, Neuronal ceroid lipofuscinosis,
Ceroid lipofuscinosis, neuronal, 6A		Pathogenic/Likely pathogenic
(Sep 17, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:68501975
GRCh38:
Chr15:68209637
CLN6W222*Ceroid lipofuscinosis, neuronal, 6ALikely pathogenic
(Feb 16, 2017)		criteria provided, single submitter
50.
GRCh37:
Chr15:68504056
GRCh38:
Chr15:68211718
CLN6V148DCeroid lipofuscinosis, neuronal, 6AUncertain significance
(Jul 27, 2017)		criteria provided, single submitter
51.
GRCh37:
Chr15:68510887
GRCh38:
Chr15:68218549
CLN6R62HNeuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Conflicting interpretations of pathogenicity
(Jan 14, 2022)		criteria provided, conflicting interpretations
52.
GRCh37:
Chr15:68506515
GRCh38:
Chr15:68214177
CLN6Ceroid lipofuscinosis, neuronal, 6AUncertain significance
(May 3, 2020)		criteria provided, single submitter
53.
GRCh37:
Chr15:68500735
GRCh38:
Chr15:68208397
CLN6E227KCeroid lipofuscinosis, neuronal, 6A, Neuronal ceroid lipofuscinosisConflicting interpretations of pathogenicity
(Apr 13, 2023)		criteria provided, conflicting interpretations
54.
GRCh37:
Chr15:68504023
GRCh38:
Chr15:68211685
CLN6P159LCeroid lipofuscinosis, neuronal, 6B (Kufs type), Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A,
not provided		Conflicting interpretations of pathogenicity
(May 4, 2022)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr15:68504192
GRCh38:
Chr15:68211854
CLN6R103Wnot provided, Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A
Conflicting interpretations of pathogenicity
(Jul 1, 2022)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr15:68500660
GRCh38:
Chr15:68208322
CLN6R252CNeuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:68521910
GRCh38:
Chr15:68229572
CLN6R5Wnot specified, Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A
Uncertain significance
(Aug 31, 2023)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr15:68504017
GRCh38:
Chr15:68211679
CLN6T161MAdult neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A, Neuronal ceroid lipofuscinosis,
Ceroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type), Inborn genetic diseases,
not provided		Uncertain significance
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
59.
Ceroid lipofuscinosis, neuronal, 6APathogenic
(May 19, 2014)		no assertion criteria provided
60.
GRCh37:
Chr15:68504092
GRCh38:
Chr15:68211754
CLN6R136HCeroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type), not specified,
Neuronal ceroid lipofuscinosis, Abnormal brain morphology		Conflicting interpretations of pathogenicity
(May 8, 2023)		criteria provided, conflicting interpretations
61.
GRCh37:
Chr15:68500516
GRCh38:
Chr15:68208178
CLN6W300Rnot provided, Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6B (Kufs type),
Ceroid lipofuscinosis, neuronal, 6A		Conflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr15:68504142-68504144
GRCh38:
Chr15:68211804-68211806
CLN6I119delCeroid lipofuscinosis, neuronal, 6A, Neuronal Ceroid-Lipofuscinosis, RecessiveUncertain significance
(May 8, 2018)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr15:68500639
GRCh38:
Chr15:68208301
CLN6G259RCeroid lipofuscinosis, neuronal, 6AUncertain significancecriteria provided, single submitter
64.
GRCh37:
Chr15:68500618-68500620
GRCh38:
Chr15:68208280-68208282
CLN6S265delnot specified, not provided, Ceroid lipofuscinosis, neuronal, 6A,
Ceroid lipofuscinosis, neuronal, 6B (Kufs type), Ceroid lipofuscinosis, neuronal, 6A, Neuronal ceroid lipofuscinosis
Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr15:68521874
GRCh38:
Chr15:68229536
CLN6G17Snot provided, Ceroid lipofuscinosis, neuronal, 6A, Inborn genetic diseases,
not specified, Neuronal ceroid lipofuscinosis		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr15:68521918
GRCh38:
Chr15:68229580
CLN6E2GCeroid lipofuscinosis, neuronal, 6B (Kufs type), Inborn genetic diseases, Ceroid lipofuscinosis, neuronal, 6A,
Neuronal ceroid lipofuscinosis, not provided		Conflicting interpretations of pathogenicity
(Oct 31, 2022)		criteria provided, conflicting interpretations
67.
GRCh37:
Chr15:68500659
GRCh38:
Chr15:68208321
CLN6R252HInborn genetic diseases, not provided, Neuronal ceroid lipofuscinosis,
Ceroid lipofuscinosis, neuronal, 6A		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
68.
GRCh37:
Chr15:68500686
GRCh38:
Chr15:68208348
CLN6A243VCeroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type), Ceroid lipofuscinosis, neuronal, 6A,
not provided, not specified, Neuronal ceroid lipofuscinosis
Uncertain significance
(Sep 5, 2023)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr15:68504195
GRCh38:
Chr15:68211857
CLN6E102KInborn genetic diseases, not provided, Neuronal ceroid lipofuscinosis,
Ceroid lipofuscinosis, neuronal, 6A		Uncertain significance
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr15:68506670
GRCh38:
Chr15:68214332
CLN6F85LCeroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type), not provided,
Neuronal ceroid lipofuscinosis		Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr15:68500491
GRCh38:
Chr15:68208153
CLN6S308TCeroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type), Ceroid lipofuscinosis, neuronal, 6A,
Adult neuronal ceroid lipofuscinosis, not specified, not provided,
Neuronal ceroid lipofuscinosis, CLN6-related condition, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(May 31, 2023)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr15:68521870
GRCh38:
Chr15:68229532
CLN6A18VInborn genetic diseases, Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A,
Adult neuronal ceroid lipofuscinosis, not specified, not provided
Conflicting interpretations of pathogenicity
(May 30, 2023)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr15:68521889
GRCh38:
Chr15:68229551
CLN6A12Tnot provided, Inborn genetic diseases, Neuronal ceroid lipofuscinosis,
Ceroid lipofuscinosis, neuronal, 6B (Kufs type), Ceroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6A,
not specified		Conflicting interpretations of pathogenicity
(Oct 1, 2023)		criteria provided, conflicting interpretations
74.
GRCh37:
Chr15:68502039
GRCh38:
Chr15:68209701
CLN6K201ENeuronal ceroid lipofuscinosis, not specified, not provided,
Ceroid lipofuscinosis, neuronal, 6A		Uncertain significance
(Dec 3, 2021)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr15:68504005
GRCh38:
Chr15:68211667
CLN6Inborn genetic diseases, Neuronal ceroid lipofuscinosis, not specified,
not provided, Agenesis of the corpus callosum with peripheral neuropathy		Conflicting interpretations of pathogenicity
(Oct 1, 2023)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr15:68504207
GRCh38:
Chr15:68211869
CLN6Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type),
not specified		Benign/Likely benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr11:6413034
GRCh38:
Chr11:6391804
SMPD1G247S, G246SSphingomyelin/cholesterol lipidosis, Niemann-Pick disease, type A, Niemann-Pick disease, type B,
not provided, Niemann-Pick disease, type A		Pathogenic/Likely pathogenic
(Jul 2, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr15:68500524
GRCh38:
Chr15:68208186
CLN6P297fsnot provided, Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A
Pathogenic/Likely pathogenic
(Aug 14, 2023)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr15:68504053
GRCh38:
Chr15:68211715
CLN6R149HCeroid lipofuscinosis, neuronal, 6B (Kufs type), Ceroid lipofuscinosis, neuronal, 6A, Neuronal ceroid lipofuscinosis,
Ceroid lipofuscinosis, neuronal, 6A		Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr15:68510922
GRCh38:
Chr15:68218584
CLN6Y50*not provided, Neuronal ceroid lipofuscinosisPathogenic/Likely pathogenic
(Feb 2, 2023)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr15:68510933
GRCh38:
Chr15:68218595
CLN6L47FCeroid lipofuscinosis, neuronal, 6AUncertain significance
(Jan 17, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr15:68504191
GRCh38:
Chr15:68211853
CLN6R103Qnot provided, Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A
Conflicting interpretations of pathogenicity
(Sep 3, 2022)		criteria provided, conflicting interpretations
83.
GRCh37:
Chr15:68506653-68506654
GRCh38:
Chr15:68214315-68214316
CLN6V91fsNeuronal ceroid lipofuscinosisPathogenic
(Aug 28, 2021)		criteria provided, single submitter
84.
GRCh37:
Chr15:68503596
GRCh38:
Chr15:68211258
CLN6Neuronal ceroid lipofuscinosisUncertain significance
(Jan 11, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr15:68501977
GRCh38:
Chr15:68209639
CLN6Y221*Ceroid lipofuscinosis, neuronal, 6APathogenic
(Aug 1, 2005)		no assertion criteria provided
86.
GRCh37:
Chr15:68504036-68504038
GRCh38:
Chr15:68211698-68211700
CLN6I154delCeroid lipofuscinosis, neuronal, 6A, Ceroid lipofuscinosis, neuronal, 6B (Kufs type), Neuronal ceroid lipofuscinosis,
not provided, Ceroid lipofuscinosis, neuronal, 6A, See cases
Pathogenic/Likely pathogenic
(Feb 20, 2023)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr15:68504103-68504104
GRCh38:
Chr15:68211765-68211766
CLN6S132fsCeroid lipofuscinosis, neuronal, 6B (Kufs type), not provided, Neuronal ceroid lipofuscinosis,
Ceroid lipofuscinosis, neuronal, 6A, See cases		Pathogenic
(Jan 21, 2023)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr15:68504182-68504183
GRCh38:
Chr15:68211844-68211845
CLN6R106fsnot provided, Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 6A
Pathogenic
(Jan 25, 2023)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr15:68521916
GRCh38:
Chr15:68229578
CLN6A3fsCeroid lipofuscinosis, neuronal, 6APathogenic
(Feb 1, 2002)		no assertion criteria provided
90.
GRCh37:
Chr15:68504131
GRCh38:
Chr15:68211793
CLN6G123Dnot provided, Neuronal ceroid lipofuscinosisConflicting interpretations of pathogenicity
(Nov 11, 2022)		criteria provided, conflicting interpretations
91.
GRCh37:
Chr15:68503627-68503629
GRCh38:
Chr15:68211289-68211291
CLN6Y172delCeroid lipofuscinosis, neuronal, 6APathogenic
(Feb 1, 2002)		no assertion criteria provided
92.
GRCh37:
Chr15:68506711
GRCh38:
Chr15:68214373
CLN6E72*Inborn genetic diseases, not provided, Neuronal ceroid lipofuscinosis,
Ceroid lipofuscinosis, neuronal, 6A		Pathogenic
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
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