ClinVar for MedGen (Select 320287) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24409421.	NM_025219.3(DNAJC5):c.482C>G (p.Ser161Cys) GRCh37: Chr20:62562364 GRCh38: Chr20:63931011	DNAJC5	S161C	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (May 15, 2019)	criteria provided, single submitter
Select item 24409412.	NM_025219.3(DNAJC5):c.493+1dup GRCh37: Chr20:62562372-62562373 GRCh38: Chr20:63931019-63931020	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 14011063.	NM_025219.3(DNAJC5):c.565C>T (p.His189Tyr) GRCh37: Chr20:62562889 GRCh38: Chr20:63931536	DNAJC5	H189Y	Ceroid lipofuscinosis, neuronal, 4 (Kufs type), Neuronal ceroid lipofuscinosis, Inborn genetic diseases	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11783464.	NM_025219.3(DNAJC5):c.347T>G (p.Leu116Arg) GRCh37: Chr20:62562229 GRCh38: Chr20:63930876	DNAJC5	L116R	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 8993565.	NM_025219.3(DNAJC5):c.*4036G>A GRCh37: Chr20:62566957 GRCh38: Chr20:63935604	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 8992936.	NM_025219.3(DNAJC5):c.*2849A>G GRCh37: Chr20:62565770 GRCh38: Chr20:63934417	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 8991837.	NM_025219.3(DNAJC5):c.*486G>A GRCh37: Chr20:62563407 GRCh38: Chr20:63932054	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8991828.	NM_025219.3(DNAJC5):c.*458G>A GRCh37: Chr20:62563379 GRCh38: Chr20:63932026	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8991819.	NM_025219.3(DNAJC5):c.*373G>A GRCh37: Chr20:62563294 GRCh38: Chr20:63931941	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89918010.	NM_025219.3(DNAJC5):c.*298C>T GRCh37: Chr20:62563219 GRCh38: Chr20:63931866	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89912211.	NM_025219.3(DNAJC5):c.-12+15G>T GRCh37: Chr20:62526691 GRCh38: Chr20:63895338	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89912112.	NM_025219.3(DNAJC5):c.-12+11T>A GRCh37: Chr20:62526687 GRCh38: Chr20:63895334	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89824713.	NM_025219.3(DNAJC5):c.*3839G>A GRCh37: Chr20:62566760 GRCh38: Chr20:63935407	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89824614.	NM_025219.3(DNAJC5):c.*3608G>C GRCh37: Chr20:62566529 GRCh38: Chr20:63935176	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89824515.	NM_025219.3(DNAJC5):c.*3550C>T GRCh37: Chr20:62566471 GRCh38: Chr20:63935118	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89818816.	NM_025219.3(DNAJC5):c.*2633G>A GRCh37: Chr20:62565554 GRCh38: Chr20:63934201	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89818717.	NM_025219.3(DNAJC5):c.*2563A>C GRCh37: Chr20:62565484 GRCh38: Chr20:63934131	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89818618.	NM_025219.3(DNAJC5):c.*2482G>C GRCh37: Chr20:62565403 GRCh38: Chr20:63934050	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89818519.	NM_025219.3(DNAJC5):c.*2385G>T GRCh37: Chr20:62565306 GRCh38: Chr20:63933953	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89806220.	NM_025219.3(DNAJC5):c.*274C>T GRCh37: Chr20:62563195 GRCh38: Chr20:63931842	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89806121.	NM_025219.3(DNAJC5):c.*177T>C GRCh37: Chr20:62563098 GRCh38: Chr20:63931745	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89806022.	NM_025219.3(DNAJC5):c.*158A>T GRCh37: Chr20:62563079 GRCh38: Chr20:63931726	DNAJC5		not provided, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 89661923.	NM_025219.3(DNAJC5):c.*3224C>T GRCh37: Chr20:62566145 GRCh38: Chr20:63934792	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89661824.	NM_025219.3(DNAJC5):c.*3215C>G GRCh37: Chr20:62566136 GRCh38: Chr20:63934783	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89661725.	NM_025219.3(DNAJC5):c.*3213G>A GRCh37: Chr20:62566134 GRCh38: Chr20:63934781	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89655926.	NM_025219.3(DNAJC5):c.*2171G>A GRCh37: Chr20:62565092 GRCh38: Chr20:63933739	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89655827.	NM_025219.3(DNAJC5):c.*1936T>C GRCh37: Chr20:62564857 GRCh38: Chr20:63933504	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89655728.	NM_025219.3(DNAJC5):c.*1934T>G GRCh37: Chr20:62564855 GRCh38: Chr20:63933502	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89655629.	NM_025219.3(DNAJC5):c.*1927G>A GRCh37: Chr20:62564848 GRCh38: Chr20:63933495	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89655530.	NM_025219.3(DNAJC5):c.*1915C>T GRCh37: Chr20:62564836 GRCh38: Chr20:63933483	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89650831.	NM_025219.3(DNAJC5):c.*948G>A GRCh37: Chr20:62563869 GRCh38: Chr20:63932516	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 89650732.	NM_025219.3(DNAJC5):c.*944A>T GRCh37: Chr20:62563865 GRCh38: Chr20:63932512	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89643433.	NM_025219.3(DNAJC5):c.*66C>T GRCh37: Chr20:62562987 GRCh38: Chr20:63931634	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89643334.	NM_025219.3(DNAJC5):c.437C>T (p.Thr146Met) GRCh37: Chr20:62562319 GRCh38: Chr20:63930966	DNAJC5	T146M	Ceroid lipofuscinosis, neuronal, 4 (Kufs type), Neuronal ceroid lipofuscinosis	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89643235.	NM_025219.3(DNAJC5):c.162G>A (p.Ala54=) GRCh37: Chr20:62560719 GRCh38: Chr20:63929366	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type), Neuronal ceroid lipofuscinosis	Conflicting interpretations of pathogenicity (Mar 19, 2022)	criteria provided, conflicting interpretations
Select item 89525736.	NM_025219.3(DNAJC5):c.*4375C>T GRCh37: Chr20:62567296 GRCh38: Chr20:63935943	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 89525637.	NM_025219.3(DNAJC5):c.*4317G>A GRCh37: Chr20:62567238 GRCh38: Chr20:63935885	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89520338.	NM_025219.3(DNAJC5):c.*3184G>A GRCh37: Chr20:62566105 GRCh38: Chr20:63934752	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89520239.	NM_025219.3(DNAJC5):c.*2983C>T GRCh37: Chr20:62565904 GRCh38: Chr20:63934551	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89520140.	NM_025219.3(DNAJC5):c.*2980C>A GRCh37: Chr20:62565901 GRCh38: Chr20:63934548	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89512941.	NM_025219.3(DNAJC5):c.*1893C>A GRCh37: Chr20:62564814 GRCh38: Chr20:63933461	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 89512842.	NM_025219.3(DNAJC5):c.*1873C>T GRCh37: Chr20:62564794 GRCh38: Chr20:63933441	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89512743.	NM_025219.3(DNAJC5):c.*1836C>T GRCh37: Chr20:62564757 GRCh38: Chr20:63933404	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89506644.	NM_025219.3(DNAJC5):c.*853C>A GRCh37: Chr20:62563774 GRCh38: Chr20:63932421	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 89506545.	NM_025219.3(DNAJC5):c.*736G>A GRCh37: Chr20:62563657 GRCh38: Chr20:63932304	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89498846.	NM_025219.3(DNAJC5):c.107+8G>T GRCh37: Chr20:62559813 GRCh38: Chr20:63928460	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 68947647.	NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup) GRCh37: Chr20:62562240-62562241 GRCh38: Chr20:63930887-63930888	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Pathogenic (Sep 1, 2019)	criteria provided, single submitter
Select item 41334548.	NM_025219.3(DNAJC5):c.561C>T (p.Asp187=) GRCh37: Chr20:62562885 GRCh38: Chr20:63931532	DNAJC5		Inborn genetic diseases, Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Likely benign (Dec 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33944749.	NM_025219.3(DNAJC5):c.*4387C>G GRCh37: Chr20:62567308 GRCh38: Chr20:63935955	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type), Neuronal Ceroid-Lipofuscinosis, Recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33944650.	NM_025219.3(DNAJC5):c.*4385A>T GRCh37: Chr20:62567306 GRCh38: Chr20:63935953	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type), Neuronal Ceroid-Lipofuscinosis, Recessive	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33944551.	NM_025219.3(DNAJC5):c.*4300C>T GRCh37: Chr20:62567221 GRCh38: Chr20:63935868	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type), Neuronal Ceroid-Lipofuscinosis, Recessive, not provided	Benign/Likely benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33944452.	NM_025219.3(DNAJC5):c.*4253C>G GRCh37: Chr20:62567174 GRCh38: Chr20:63935821	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type), Neuronal Ceroid-Lipofuscinosis, Recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33944353.	NM_025219.3(DNAJC5):c.*4131C>T GRCh37: Chr20:62567052 GRCh38: Chr20:63935699	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33944254.	NM_025219.3(DNAJC5):c.*4129G>C GRCh37: Chr20:62567050 GRCh38: Chr20:63935697	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33944155.	NM_025219.3(DNAJC5):c.*4117C>T GRCh37: Chr20:62567038 GRCh38: Chr20:63935685	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign/Likely benign (Aug 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33944056.	NM_025219.3(DNAJC5):c.*4070C>T GRCh37: Chr20:62566991 GRCh38: Chr20:63935638	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33943957.	NM_025219.3(DNAJC5):c.*4070C>G GRCh37: Chr20:62566991 GRCh38: Chr20:63935638	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign (May 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33943858.	NM_025219.3(DNAJC5):c.*4065G>A GRCh37: Chr20:62566986 GRCh38: Chr20:63935633	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type), Neuronal Ceroid-Lipofuscinosis, Recessive	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33943759.	NM_025219.3(DNAJC5):c.*4057C>T GRCh37: Chr20:62566978 GRCh38: Chr20:63935625	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33943660.	NM_025219.3(DNAJC5):c.*4007G>C GRCh37: Chr20:62566928 GRCh38: Chr20:63935575	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign (May 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33943561.	NM_025219.3(DNAJC5):c.*4006C>T GRCh37: Chr20:62566927 GRCh38: Chr20:63935574	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33943462.	NM_025219.3(DNAJC5):c.*3995A>G GRCh37: Chr20:62566916 GRCh38: Chr20:63935563	DNAJC5		Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Likely benign (Sep 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33943363.	NM_025219.3(DNAJC5):c.*3870G>A GRCh37: Chr20:62566791 GRCh38: Chr20:63935438	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33943264.	NM_025219.3(DNAJC5):c.*3670A>G GRCh37: Chr20:62566591 GRCh38: Chr20:63935238	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33943165.	NM_025219.3(DNAJC5):c.*3629A>G GRCh37: Chr20:62566550 GRCh38: Chr20:63935197	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33942966.	NM_025219.3(DNAJC5):c.*3480G>C GRCh37: Chr20:62566401 GRCh38: Chr20:63935048	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33942867.	NM_025219.3(DNAJC5):c.*3432G>A GRCh37: Chr20:62566353 GRCh38: Chr20:63935000	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33942768.	NM_025219.3(DNAJC5):c.*3413A>G GRCh37: Chr20:62566334 GRCh38: Chr20:63934981	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33942669.	NM_025219.3(DNAJC5):c.*3375C>T GRCh37: Chr20:62566296 GRCh38: Chr20:63934943	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33942570.	NM_025219.3(DNAJC5):c.*3269C>G GRCh37: Chr20:62566190 GRCh38: Chr20:63934837	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33942371.	NM_025219.3(DNAJC5):c.*3252G>A GRCh37: Chr20:62566173 GRCh38: Chr20:63934820	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33942272.	NM_025219.3(DNAJC5):c.*3239C>T GRCh37: Chr20:62566160 GRCh38: Chr20:63934807	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33942173.	NM_025219.3(DNAJC5):c.*3204C>T GRCh37: Chr20:62566125 GRCh38: Chr20:63934772	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33942074.	NM_025219.3(DNAJC5):c.*3116T>A GRCh37: Chr20:62566037 GRCh38: Chr20:63934684	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33941975.	NM_025219.3(DNAJC5):c.*3009G>A GRCh37: Chr20:62565930 GRCh38: Chr20:63934577	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33941876.	NM_025219.3(DNAJC5):c.*2993C>T GRCh37: Chr20:62565914 GRCh38: Chr20:63934561	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33941777.	NM_025219.3(DNAJC5):c.*2933C>T GRCh37: Chr20:62565854 GRCh38: Chr20:63934501	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33941678.	NM_025219.3(DNAJC5):c.*2913G>A GRCh37: Chr20:62565834 GRCh38: Chr20:63934481	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33941579.	NM_025219.3(DNAJC5):c.*2912C>T GRCh37: Chr20:62565833 GRCh38: Chr20:63934480	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33941480.	NM_025219.3(DNAJC5):c.*2878T>C GRCh37: Chr20:62565799 GRCh38: Chr20:63934446	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33941381.	NM_025219.3(DNAJC5):c.*2790C>T GRCh37: Chr20:62565711 GRCh38: Chr20:63934358	DNAJC5		not provided, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), Neuronal Ceroid-Lipofuscinosis, Recessive	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 33941182.	NM_025219.3(DNAJC5):c.*2725G>A GRCh37: Chr20:62565646 GRCh38: Chr20:63934293	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign/Likely benign (May 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33941083.	NM_025219.3(DNAJC5):c.*2723A>G GRCh37: Chr20:62565644 GRCh38: Chr20:63934291	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign/Likely benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33940984.	NM_025219.3(DNAJC5):c.*2711G>A GRCh37: Chr20:62565632 GRCh38: Chr20:63934279	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign/Likely benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33940885.	NM_025219.3(DNAJC5):c.*2701C>T GRCh37: Chr20:62565622 GRCh38: Chr20:63934269	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign (May 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33940786.	NM_025219.3(DNAJC5):c.*2601C>T GRCh37: Chr20:62565522 GRCh38: Chr20:63934169	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign/Likely benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33940687.	NM_025219.3(DNAJC5):c.*2545C>G GRCh37: Chr20:62565466 GRCh38: Chr20:63934113	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33940588.	NM_025219.3(DNAJC5):c.*2218A>G GRCh37: Chr20:62565139 GRCh38: Chr20:63933786	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33940489.	NM_025219.3(DNAJC5):c.*2208C>T GRCh37: Chr20:62565129 GRCh38: Chr20:63933776	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign/Likely benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 33940390.	NM_025219.3(DNAJC5):c.*2191G>C GRCh37: Chr20:62565112 GRCh38: Chr20:63933759	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 33940291.	NM_025219.3(DNAJC5):c.*2039C>T GRCh37: Chr20:62564960 GRCh38: Chr20:63933607	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33940192.	NM_025219.3(DNAJC5):c.*1895C>G GRCh37: Chr20:62564816 GRCh38: Chr20:63933463	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33940093.	NM_025219.3(DNAJC5):c.*1820C>A GRCh37: Chr20:62564741 GRCh38: Chr20:63933388	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33939994.	NM_025219.3(DNAJC5):c.*1648C>T GRCh37: Chr20:62564569 GRCh38: Chr20:63933216	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 33939895.	NM_025219.3(DNAJC5):c.*1643T>C GRCh37: Chr20:62564564 GRCh38: Chr20:63933211	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33939796.	NM_025219.3(DNAJC5):c.*1630C>T GRCh37: Chr20:62564551 GRCh38: Chr20:63933198	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33939697.	NM_025219.3(DNAJC5):c.*1604C>T GRCh37: Chr20:62564525 GRCh38: Chr20:63933172	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 33939598.	NM_025219.3(DNAJC5):c.*1557T>G GRCh37: Chr20:62564478 GRCh38: Chr20:63933125	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 33939499.	NM_025219.3(DNAJC5):c.*1556A>G GRCh37: Chr20:62564477 GRCh38: Chr20:63933124	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	Benign/Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 339393100.	NM_025219.3(DNAJC5):c.*1442A>G GRCh37: Chr20:62564363 GRCh38: Chr20:63933010	DNAJC5		Neuronal Ceroid-Lipofuscinosis, Recessive, Ceroid lipofuscinosis, neuronal, 4 (Kufs type), not provided	Benign/Likely benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts

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