ClinVar for MedGen (Select 155549) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25792351.	GRCh38/hg38 16p12.1(chr16:28486250-28486550)x1 GRCh38: Chr16:28486250-28486550	CLN3		Neuronal ceroid lipofuscinosis 3	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 24357262.	NM_001042432.2(CLN3):c.354_355insG (p.Leu119fs) GRCh37: Chr16:28499002-28499003 GRCh38: Chr16:28487681-28487682	CLN3	L119fs, L41fs, L65fs, L95fs	Neuronal ceroid lipofuscinosis 3	Pathogenic (Feb 17, 2023)	criteria provided, single submitter
Select item 24315473.	NC_000016.10:g.(28485964_28486930)del	CLN3		Neuronal ceroid lipofuscinosis 3	Pathogenic (Sep 5, 2022)	criteria provided, single submitter
Select item 17269244.	NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter) GRCh37: Chr16:28499930 GRCh38: Chr16:28488609	CLN3	A19E, C38, C92	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 17267155.	NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter) GRCh37: Chr16:28497904 GRCh38: Chr16:28486583	CLN3	Y122, Y152, Y176, Y76, Y98*	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 17266436.	NM_001042432.2(CLN3):c.849del (p.Trp283fs) GRCh37: Chr16:28493855 GRCh38: Chr16:28482534	CLN3	W183fs, W205fs, W229fs, W259fs, W283fs	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 17261977.	NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter) GRCh37: Chr16:28493444 GRCh38: Chr16:28482123	CLN3	W246, W268, W292, W322, W346*	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 17252868.	NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter) GRCh37: Chr16:28493852 GRCh38: Chr16:28482531	CLN3	Y184, Y206, Y230, Y260, Y284*	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 17251809.	NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter) GRCh37: Chr16:28497735 GRCh38: Chr16:28486414	CLN3	Q104, Q126, Q150, Q180, Q204*	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 168563910.	NM_001042432.2(CLN3):c.382dup (p.Val128fs) GRCh37: Chr16:28498854-28498855 GRCh38: Chr16:28487533-28487534	CLN3	V104fs, V128fs, V28fs, V50fs, V74fs	Neuronal ceroid lipofuscinosis 3	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 143884711.	NM_001042432.2(CLN3):c.538G>A (p.Val180Met) GRCh37: Chr16:28497807 GRCh38: Chr16:28486486	CLN3	V156M, V180M, V126M, V80M, V102M	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121397712.	NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) GRCh37: Chr16:28497920 GRCh38: Chr16:28486599	CLN3	S117F, S147F, S171F, S71F, S93F	Retinitis pigmentosa, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Conflicting interpretations of pathogenicity (May 27, 2022)	criteria provided, conflicting interpretations
Select item 117270613.	NM_001042432.2(CLN3):c.147C>G (p.Asn49Lys) GRCh37: Chr16:28500686 GRCh38: Chr16:28489365	CLN3	N49K	Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110432814.	NM_001042432.2(CLN3):c.223-8C>T GRCh37: Chr16:28499991 GRCh38: Chr16:28488670	CLN3		Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Likely benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106578415.	NM_001042432.2(CLN3):c.317T>A (p.Leu106His) GRCh37: Chr16:28499040 GRCh38: Chr16:28487719	CLN3	L106H, L28H, L52H, L82H	Neuronal ceroid lipofuscinosis 3	Uncertain significance (Apr 8, 2021)	criteria provided, single submitter
Select item 106116316.	NM_001042432.2(CLN3):c.791-7C>A GRCh37: Chr16:28494000 GRCh38: Chr16:28482679	CLN3		Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 101942717.	NM_001042432.2(CLN3):c.379C>T (p.Arg127Trp) GRCh37: Chr16:28498858 GRCh38: Chr16:28487537	CLN3	R103W, R127W, R27W, R49W, R73W	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99683018.	NM_001042432.2(CLN3):c.1127del (p.Leu376fs) GRCh37: Chr16:28489128 GRCh38: Chr16:28477807	CLN3	L276fs, L298fs, L322fs, L352fs, L376fs	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Jan 24, 2019)	no assertion criteria provided
Select item 98387019.	NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter) GRCh37: Chr16:28493648 GRCh38: Chr16:28482327	CLN3	W221, W243, W267, W297, W321*	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Mar 16, 2020)	criteria provided, single submitter
Select item 95085620.	NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) GRCh37: Chr16:28500658 GRCh38: Chr16:28489337	CLN3	A5T, A59T	Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 91598121.	GRCh37/hg19 16p11.2(chr16:28497668-28497972) GRCh37: Chr16:28497668-28497972	CLN3		Neuronal ceroid lipofuscinosis 3	Pathogenic (Apr 16, 2020)	no assertion criteria provided
Select item 88791422.	NM_001042432.2(CLN3):c.*58A>C GRCh37: Chr16:28488779 GRCh38: Chr16:28477458	CLN3		Neuronal ceroid lipofuscinosis 3	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 88791323.	NM_001042432.2(CLN3):c.*111G>T GRCh37: Chr16:28488726 GRCh38: Chr16:28477405	CLN3		Neuronal ceroid lipofuscinosis 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88671524.	NM_001042432.2(CLN3):c.565G>T (p.Gly189Trp) GRCh37: Chr16:28497780 GRCh38: Chr16:28486459	CLN3	G135W, G165W, G189W, G89W, G111W	Neuronal ceroid lipofuscinosis 3	Uncertain significance (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88666125.	NM_001042432.2(CLN3):c.*187G>A GRCh37: Chr16:28488650 GRCh38: Chr16:28477329	CLN3		Neuronal ceroid lipofuscinosis 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88576226.	NM_001042432.1(CLN3):c.-364C>T GRCh37: Chr16:28503628 GRCh38: Chr16:28492307	CLN3		Neuronal ceroid lipofuscinosis 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88576127.	NM_001042432.1(CLN3):c.-279G>C GRCh37: Chr16:28503543 GRCh38: Chr16:28492222	CLN3		Neuronal ceroid lipofuscinosis 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88576028.	NM_001042432.1(CLN3):c.-210G>T GRCh37: Chr16:28503474 GRCh38: Chr16:28492153	CLN3		Neuronal ceroid lipofuscinosis 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88570829.	NM_001042432.2(CLN3):c.759C>A (p.Leu253=) GRCh37: Chr16:28495358 GRCh38: Chr16:28484037	CLN3		Neuronal ceroid lipofuscinosis, not provided, Neuronal ceroid lipofuscinosis 3	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 88570730.	NM_001042432.2(CLN3):c.868G>A (p.Val290Ile) GRCh37: Chr16:28493836 GRCh38: Chr16:28482515	CLN3	V290I, V190I, V266I, V212I, V236I	Neuronal ceroid lipofuscinosis 3	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 88483431.	NM_001042432.2(CLN3):c.206C>G (p.Ser69Trp) GRCh37: Chr16:28500627 GRCh38: Chr16:28489306	CLN3	S15W, S69W	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88476432.	NM_001042432.2(CLN3):c.1084G>A (p.Asp362Asn) GRCh37: Chr16:28489171 GRCh38: Chr16:28477850	CLN3	D284N, D362N, D262N, D308N, D338N	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88476333.	NM_001042432.2(CLN3):c.1119C>T (p.Leu373=) GRCh37: Chr16:28489136 GRCh38: Chr16:28477815	CLN3		Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 86629734.	NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter) GRCh37: Chr16:28495366 GRCh38: Chr16:28484045	CLN3	Q251, Q151, Q173, Q227, Q197*	Neuronal ceroid lipofuscinosis, Retinal dystrophy, Neuronal ceroid lipofuscinosis 3	Pathogenic/Likely pathogenic (Nov 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85516935.	NM_001042432.2(CLN3):c.464T>G (p.Val155Gly) GRCh37: Chr16:28497968 GRCh38: Chr16:28486647	CLN3	V101G, V55G, V131G, V77G, V155G	Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85261936.	NM_001042432.2(CLN3):c.790+2T>C GRCh37: Chr16:28495325 GRCh38: Chr16:28484004	CLN3		Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Pathogenic/Likely pathogenic (Dec 15, 2019)	criteria provided, multiple submitters, no conflicts
Select item 84050037.	NM_001042432.2(CLN3):c.782C>T (p.Ser261Leu) GRCh37: Chr16:28495335 GRCh38: Chr16:28484014	CLN3	S161L, S207L, S237L, S183L, S261L	Inborn genetic diseases, Neuronal ceroid lipofuscinosis 3, not provided, Neuronal ceroid lipofuscinosis	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81330238.	GRCh37/hg19 16p11.2(chr16:28497668-28497971) GRCh37: Chr16:28497668-28497971	CLN3		Neuronal ceroid lipofuscinosis 3	Pathogenic (Jun 11, 2019)	criteria provided, single submitter
Select item 69651039.	NM_001042432.2(CLN3):c.126-8C>T GRCh37: Chr16:28500715 GRCh38: Chr16:28489394	CLN3		Neuronal ceroid lipofuscinosis, not provided, Neuronal ceroid lipofuscinosis 3	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 66643140.	NM_001042432.2(CLN3):c.460+376_677+388del GRCh37: Chr16:28497280-28498401 GRCh38: Chr16:28485959-28487080	CLN3		Neuronal ceroid lipofuscinosis 3	Pathogenic (Jan 1, 2015)	criteria provided, single submitter
Select item 63277241.	NM_001042432.2(CLN3):c.790+532_1056+1445del GRCh37: Chr16:28491981-28494795 GRCh38: Chr16:28480660-28483474	CLN3		Neuronal ceroid lipofuscinosis 3	Pathogenic (Jan 8, 2018)	criteria provided, single submitter
Select item 58806742.	NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg) GRCh37: Chr16:28488951 GRCh38: Chr16:28477630	CLN3	S401R, S377R, S301R, S323R, S347R	Inborn genetic diseases, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58570643.	NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser) GRCh37: Chr16:28488869 GRCh38: Chr16:28477548	CLN3	P429S, P375S, P329S, P351S, P405S	not provided, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58234044.	NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val) GRCh37: Chr16:28488914 GRCh38: Chr16:28477593	CLN3	I414V, I314V, I336V, I360V, I390V	Neuronal ceroid lipofuscinosis, not provided, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58186445.	NM_001042432.2(CLN3):c.644C>A (p.Ser215Tyr) GRCh37: Chr16:28497701 GRCh38: Chr16:28486380	CLN3	S215Y, S137Y, S115Y, S161Y, S191Y	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56642646.	NM_001042432.2(CLN3):c.47-3C>T GRCh37: Chr16:28502884 GRCh38: Chr16:28491563	CLN3		Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55857447.	NM_001042432.2(CLN3):c.46+1G>C GRCh37: Chr16:28503034 GRCh38: Chr16:28491713	CLN3		Neuronal ceroid lipofuscinosis 3	Likely pathogenic (May 29, 2018)	criteria provided, single submitter
Select item 55774948.	NM_001042432.2(CLN3):c.963-63_963-44dup GRCh37: Chr16:28493562-28493563 GRCh38: Chr16:28482241-28482242	CLN3		Neuronal ceroid lipofuscinosis 3	Likely benign (Apr 6, 2018)	criteria provided, single submitter
Select item 55656049.	NM_001042432.2(CLN3):c.295-2A>C GRCh37: Chr16:28499064 GRCh38: Chr16:28487743	CLN3		Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Feb 6, 2018)	criteria provided, single submitter
Select item 55460850.	NM_001042432.2(CLN3):c.47-1G>A GRCh37: Chr16:28502882 GRCh38: Chr16:28491561	CLN3		Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 55270651.	NM_001042432.2(CLN3):c.790+1del GRCh37: Chr16:28495326 GRCh38: Chr16:28484005	CLN3		Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Pathogenic/Likely pathogenic (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55252352.	NM_001042432.2(CLN3):c.223-1G>A GRCh37: Chr16:28499984 GRCh38: Chr16:28488663	CLN3		Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Jun 20, 2017)	criteria provided, single submitter
Select item 55179053.	NM_001042432.2(CLN3):c.125+1del GRCh37: Chr16:28502802 GRCh38: Chr16:28491481	CLN3		Neuronal ceroid lipofuscinosis 3	Likely pathogenic (May 9, 2017)	criteria provided, single submitter
Select item 55066654.	NM_001042432.2(CLN3):c.195dup (p.Lys66fs) GRCh37: Chr16:28500637-28500638 GRCh38: Chr16:28489316-28489317	CLN3	K66fs, K12fs	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Feb 7, 2017)	criteria provided, single submitter
Select item 55054455.	NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter) GRCh37: Chr16:28489139 GRCh38: Chr16:28477818	CLN3	Y372, Y318, Y272, Y294, Y348*	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Jan 31, 2017)	criteria provided, single submitter
Select item 55026856.	NM_001042432.2(CLN3):c.1A>G (p.Met1Val) GRCh37: Chr16:28503080 GRCh38: Chr16:28491759	CLN3	M1V	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Pathogenic/Likely pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55008857.	NM_001042432.2(CLN3):c.1067dup (p.Val357fs) GRCh37: Chr16:28489187-28489188 GRCh38: Chr16:28477866-28477867	CLN3	V303fs, V333fs, V257fs, V279fs, V357fs	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Jan 6, 2017)	criteria provided, single submitter
Select item 55002558.	NM_001042432.2(CLN3):c.963-2A>C GRCh37: Chr16:28493521 GRCh38: Chr16:28482200	CLN3		Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Dec 29, 2017)	criteria provided, single submitter
Select item 52772959.	NM_001042432.2(CLN3):c.748C>T (p.Arg250Trp) GRCh37: Chr16:28495369 GRCh38: Chr16:28484048	CLN3	R250W, R172W, R150W, R226W, R196W	Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51103860.	NM_001042432.2(CLN3):c.615C>T (p.Ala205=) GRCh37: Chr16:28497730 GRCh38: Chr16:28486409	CLN3		not specified, Neuronal ceroid lipofuscinosis	Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50964761.	NM_001042432.2(CLN3):c.309G>A (p.Ala103=) GRCh37: Chr16:28499048 GRCh38: Chr16:28487727	CLN3		not specified, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50938462.	NM_001042432.2(CLN3):c.870A>G (p.Val290=) GRCh37: Chr16:28493834 GRCh38: Chr16:28482513	CLN3		not specified, Neuronal ceroid lipofuscinosis	Likely benign (Feb 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50210963.	NM_001042432.2(CLN3):c.1087G>A (p.Val363Met) GRCh37: Chr16:28489168 GRCh38: Chr16:28477847	CLN3	V363M, V263M, V309M, V339M, V285M	Inborn genetic diseases, not provided, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49747964.	NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp) GRCh37: Chr16:28495346 GRCh38: Chr16:28484025	CLN3	E257D, E157D, E179D, E203D, E233D	not provided, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Uncertain significance (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49740865.	NM_001042432.2(CLN3):c.152C>T (p.Ser51Phe) GRCh37: Chr16:28500681 GRCh38: Chr16:28489360	CLN3	S51F	Neuronal ceroid lipofuscinosis 3, not provided, Neuronal ceroid lipofuscinosis	Uncertain significance (Jul 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45795466.	NM_001042432.2(CLN3):c.569dup (p.Ala191fs) GRCh37: Chr16:28497775-28497776 GRCh38: Chr16:28486454-28486455	CLN3	A113fs, A91fs, A191fs, A137fs, A167fs	Neuronal ceroid lipofuscinosis, not provided, Neuronal ceroid lipofuscinosis 3	Pathogenic (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45795367.	NM_001042432.2(CLN3):c.447G>T (p.Gly149=) GRCh37: Chr16:28498790 GRCh38: Chr16:28487469	CLN3		not specified, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 45795168.	NM_001042432.2(CLN3):c.222T>C (p.His74=) GRCh37: Chr16:28500611 GRCh38: Chr16:28489290	CLN3	M1T	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, not provided	Conflicting interpretations of pathogenicity (Aug 5, 2022)	criteria provided, conflicting interpretations
Select item 44959869.	NM_001042432.2(CLN3):c.239C>T (p.Thr80Met) GRCh37: Chr16:28499967 GRCh38: Chr16:28488646	CLN3	T80M, R7C, T26M	Neuronal ceroid lipofuscinosis 3, not provided, Neuronal ceroid lipofuscinosis	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43823570.	NM_001042432.2(CLN3):c.461-279_677+384del GRCh37: Chr16:28497284-28498250 GRCh38: Chr16:28485963-28486929	CLN3		Neuronal ceroid lipofuscinosis 3	Pathogenic (Jun 6, 2015)	criteria provided, single submitter
Select item 43822571.	NM_001042432.2(CLN3):c.853A>G (p.Ile285Val) GRCh37: Chr16:28493851 GRCh38: Chr16:28482530	CLN3	I285V, I207V, I261V, I185V, I231V	Retinal dystrophy, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43479272.	NM_001042432.2(CLN3):c.290C>T (p.Thr97Met) GRCh37: Chr16:28499916 GRCh38: Chr16:28488595	CLN3	T97M, T43M, R24W	Neuronal ceroid lipofuscinosis 3, Inborn genetic diseases, not specified, Neuronal ceroid lipofuscinosis	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43479173.	NM_001042432.2(CLN3):c.319C>T (p.Pro107Ser) GRCh37: Chr16:28499038 GRCh38: Chr16:28487717	CLN3	P107S, P29S, P83S, P53S	Neuronal ceroid lipofuscinosis 3, not specified, Neuronal ceroid lipofuscinosis	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42407774.	NM_001042432.2(CLN3):c.32T>C (p.Phe11Ser) GRCh37: Chr16:28503049 GRCh38: Chr16:28491728	CLN3	F11S	Neuronal ceroid lipofuscinosis 3, not provided, Neuronal ceroid lipofuscinosis	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42350775.	NM_001042432.2(CLN3):c.1120G>A (p.Val374Ile) GRCh37: Chr16:28489135 GRCh38: Chr16:28477814	CLN3	V374I, V274I, V296I, V350I, V320I	Inborn genetic diseases, not provided, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42228876.	NM_001042432.2(CLN3):c.461-3C>G GRCh37: Chr16:28497974 GRCh38: Chr16:28486653	CLN3		Neuronal ceroid lipofuscinosis 3, not provided, Neuronal ceroid lipofuscinosis	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 42156377.	NM_001042432.2(CLN3):c.1012C>T (p.Arg338Cys) GRCh37: Chr16:28493470 GRCh38: Chr16:28482149	CLN3	R338C, R284C, R238C, R260C, R314C	Inborn genetic diseases, Neuronal ceroid lipofuscinosis, not provided, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42154978.	NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala) GRCh37: Chr16:28488920 GRCh38: Chr16:28477599	CLN3	T412A, T388A, T334A, T312A, T358A	not provided, Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42026379.	NM_001042432.2(CLN3):c.-1G>T GRCh37: Chr16:28503081 GRCh38: Chr16:28491760	CLN3		Inborn genetic diseases, not provided, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 42000780.	NM_001042432.2(CLN3):c.784A>T (p.Lys262Ter) GRCh37: Chr16:28495333 GRCh38: Chr16:28484012	CLN3	K262, K184, K162, K238, K208*	not provided, Neuronal ceroid lipofuscinosis 3	Pathogenic (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41899481.	NM_001042432.2(CLN3):c.938T>C (p.Leu313Pro) GRCh37: Chr16:28493672 GRCh38: Chr16:28482351	CLN3	L313P, L259P, L213P, L235P, L289P	Neuronal ceroid lipofuscinosis 3, not provided, Neuronal ceroid lipofuscinosis	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41860782.	NM_001042432.2(CLN3):c.461-3C>A GRCh37: Chr16:28497974 GRCh38: Chr16:28486653	CLN3		not provided, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41813783.	NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) GRCh37: Chr16:28488941 GRCh38: Chr16:28477620	CLN3	R405W, R351W, R305W, R327W, R381W	not provided, Retinitis pigmentosa, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, Retinal dystrophy	Conflicting interpretations of pathogenicity (Jul 24, 2023)	criteria provided, conflicting interpretations
Select item 41813684.	NM_001042432.2(CLN3):c.238A>T (p.Thr80Ser) GRCh37: Chr16:28499968 GRCh38: Chr16:28488647	CLN3	T80S, T26S, Q6H	Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 39169885.	NM_001042432.2(CLN3):c.814C>T (p.Arg272Trp) GRCh37: Chr16:28493970 GRCh38: Chr16:28482649	CLN3	R272W, R172W, R248W, R194W, R218W	not provided, Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38750686.	NM_001042432.2(CLN3):c.125+3G>A GRCh37: Chr16:28502800 GRCh38: Chr16:28491479	CLN3		Neuronal ceroid lipofuscinosis 3, not specified, Neuronal ceroid lipofuscinosis	Conflicting interpretations of pathogenicity (May 27, 2022)	criteria provided, conflicting interpretations
Select item 37363187.	NM_001042432.2(CLN3):c.1013G>A (p.Arg338His) GRCh37: Chr16:28493469 GRCh38: Chr16:28482148	CLN3	R338H, R238H, R314H, R260H, R284H	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3, not specified	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37153888.	NM_001042432.2(CLN3):c.791-1G>A GRCh37: Chr16:28493994 GRCh38: Chr16:28482673	CLN3		Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Oct 12, 2016)	criteria provided, single submitter
Select item 37145989.	NM_001042432.2(CLN3):c.677+1G>T GRCh37: Chr16:28497667 GRCh38: Chr16:28486346	CLN3		Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Oct 19, 2016)	criteria provided, single submitter
Select item 37136490.	NM_001042432.2(CLN3):c.281_282del (p.Ser94fs) GRCh37: Chr16:28499924-28499925 GRCh38: Chr16:28488603-28488604	CLN3	S40fs, L21fs, S94fs	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Sep 6, 2016)	criteria provided, single submitter
Select item 37131791.	NM_001042432.2(CLN3):c.2T>C (p.Met1Thr) GRCh37: Chr16:28503079 GRCh38: Chr16:28491758	CLN3	M1T	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Aug 29, 2016)	criteria provided, single submitter
Select item 37067592.	NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter) GRCh37: Chr16:28489196 GRCh38: Chr16:28477875	CLN3	C353, C253, C299, C329, C275*	Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3	Pathogenic/Likely pathogenic (May 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 37066793.	NM_001042432.2(CLN3):c.963-1G>A GRCh37: Chr16:28493520 GRCh38: Chr16:28482199	CLN3		Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Likely pathogenic (Jun 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37045594.	NM_001042432.2(CLN3):c.906+2T>A GRCh37: Chr16:28493796 GRCh38: Chr16:28482475	CLN3		not provided, Neuronal ceroid lipofuscinosis	Pathogenic/Likely pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37024395.	NM_001042432.2(CLN3):c.46+1G>A GRCh37: Chr16:28503034 GRCh38: Chr16:28491713	CLN3		Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis	Likely pathogenic (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37023396.	NM_001042432.2(CLN3):c.683dup (p.Leu230fs) GRCh37: Chr16:28495433-28495434 GRCh38: Chr16:28484112-28484113	CLN3	L152fs, L206fs, L230fs, L176fs, L130fs	Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Dec 21, 2015)	criteria provided, single submitter
Select item 37014497.	NM_001042432.2(CLN3):c.962+1G>A GRCh37: Chr16:28493647 GRCh38: Chr16:28482326	CLN3		Neuronal ceroid lipofuscinosis 3	Likely pathogenic (Nov 25, 2015)	criteria provided, single submitter
Select item 31873198.	NM_001042432.1(CLN3):c.-264C>G GRCh37: Chr16:28503528 GRCh38: Chr16:28492207	CLN3		Neuronal ceroid lipofuscinosis 3, Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, not provided	Conflicting interpretations of pathogenicity (Jul 7, 2018)	criteria provided, conflicting interpretations
Select item 31873099.	NM_001042432.1(CLN3):c.-218G>A GRCh37: Chr16:28503482 GRCh38: Chr16:28492161	CLN3		Neuronal ceroid lipofuscinosis 3, Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 318729100.	NM_001042432.2(CLN3):c.-129G>C GRCh37: Chr16:28503393 GRCh38: Chr16:28492072	CLN3		Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive, not provided, Neuronal ceroid lipofuscinosis 3	Conflicting interpretations of pathogenicity (Jun 29, 2018)	criteria provided, conflicting interpretations

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