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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: late infantile neuronal ceroid lipofuscinosis (MONDO:0015674)
..Starting node ..neuronal ceroid lipofuscinosis 5 ()
Child Nodes:
Sister Nodes:
..neuronal ceroid lipofuscinosis 1 ()
..neuronal ceroid lipofuscinosis 10 ()
..neuronal ceroid lipofuscinosis 2 ()
..neuronal ceroid lipofuscinosis 5 ()
..neuronal ceroid lipofuscinosis 6 ()
..neuronal ceroid lipofuscinosis 7 ()
..neuronal ceroid lipofuscinosis 8 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9745

Name:

neuronal ceroid lipofuscinosis 5

Definition:

Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes ( mutations ) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

Alternative IDs:

256731

ParentIDs:

TreeNumbers:

Synonyms:

ceroid lipofuscinosis, neuronal, 5; ceroid lipofuscinosis, neuronal, 5, variable Age at onset; ceroid lipofuscinosis, neuronal, 5; CLN5; ceroid lipofuscinosis, neuronal, type 5; CLN5; CLN5 disease; CLN5 disease, adult; CLN5 disease, juvenile; CLN5 disease, late infantile (subtype); CLN5 neuronal cer

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 256731;
MSeqDR :
Genes: ABCA4; CLN5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
3	HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
4	HP:0002074	Increased neuronal autofluorescent lipopigment
5	HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
6	HP:0001311	Abnormal nervous system electrophysiology
7	HP:0001251	Ataxia
8	HP:0001272	Cerebellar atrophy	HP:0040283
9	HP:0002312	Clumsiness
10	HP:0002376	Developmental regression
11	HP:0001260	Dysarthria NAMDC: Dysarthria	HP:0040283
12	HP:0002075	Dysdiadochokinesis	HP:0040283
13	HP:0001310	Dysmetria	HP:0040283
14	HP:0001249	Intellectual disability
15	HP:0002333	Motor deterioration
16	HP:0001336	Myoclonus NAMDC: Myoclonus
17	HP:0000639	Nystagmus	HP:0040283
18	HP:0000529	Progressive visual loss
19	HP:0000546	Retinal degeneration
20	HP:0001250	Seizures NAMDC: Seizures

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter)	1203	CLN5	Pathogenic/Likely pathogenic	200348035	RCV000521345\|RCV000984156\|RCV001858008;	N	MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77566317	77566317	13:g.77566317G>A	ClinGen:CA7007121	CN517202 not provided;
NM_006493.4(CLN5):c.155_167del (p.His52fs)	1203	CLN5	Pathogenic/Likely pathogenic	1057517134	RCV000410399\|RCV003114526;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77566385	77566397	13:g.77566385_77566397del	ClinGen:CA16041686	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.187del (p.Arg63fs)	1203	CLN5	Pathogenic/Likely pathogenic	1555273881	RCV000632695\|RCV001729667;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77569210	77569210	NC_000013.10:g.77569211del	ClinGen:CA658798158	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.188G>A (p.Arg63His)	1203	CLN5	Pathogenic/Likely pathogenic	104894386	RCV000002676\|RCV000698933\|RCV003128567;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:CN517202	13	77569212	77569212	13:g.77569212G>A	ClinGen:CA252330,OMIM:608102.0004	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer)	1203	CLN5	Pathogenic/Likely pathogenic	2034242246	RCV001389542\|RCV003469757;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77569230	77569236	77569229	-
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)	1203	CLN5	Pathogenic/Likely pathogenic	386833971	RCV000049947\|RCV001058589;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77569310	77569310	13:g.77569310C>T	ClinGen:CA263887	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)	1203	CLN5	Pathogenic/Likely pathogenic	386833972	RCV000049949\|RCV002265586;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77570074	77570074	13:g.77570074T>G	ClinGen:CA263891	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.438del (p.His148fs)	1203	CLN5	Pathogenic/Likely pathogenic	1555273992	RCV000674313\|RCV001049322;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77570133	77570133	13:g.77570133_77570133del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs)	1203	CLN5	Pathogenic/Likely pathogenic	1555274005	RCV000501228;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570206	77570207	13:g.77570206_77570207insTGATG	ClinGen:CA645372989	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.522dup (p.Trp175fs)	1203	CLN5	Pathogenic/Likely pathogenic	386833979	RCV000049956\|RCV000690321;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77570218	77570219	13:g.77570218_77570219insC	ClinGen:CA263910	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)	1203	CLN5	Pathogenic/Likely pathogenic	386833980	RCV000049957\|RCV000187071\|RCV000818212;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77570221	77570221	NC_000013.10:g.77570221G>A	ClinGen:CA263911	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)	1203	CLN5	Pathogenic/Likely pathogenic	587780315	RCV000116757\|RCV001008713\|RCV001036078\|RCV002316300;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77570221	77570221	13:g.77570221_77570221del	ClinGen:CA269778	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter)	1203	CLN5	Pathogenic/Likely pathogenic	1555274338	RCV000625737\|RCV000627363\|RCV001868156;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574702	77574702	13:g.77574702G>A	ClinGen:CA388311935	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.705_706del (p.Leu236fs)	1203	CLN5	Pathogenic/Likely pathogenic	1555274343	RCV000674631\|RCV001861846;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574729	77574730	13:g.77574729_77574730del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.713_720del (p.Thr238fs)	1203	CLN5	Pathogenic/Likely pathogenic	1555274344	RCV000667867\|RCV001855490;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574740	77574747	13:g.77574740_77574747del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)	1203	CLN5	Pathogenic/Likely pathogenic	786204644	RCV000169429\|RCV000413943\|RCV000468638\|RCV002372061;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77574802	77574803	13:g.77574802_77574803del	ClinGen:CA274301	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)	1203	CLN5	Pathogenic/Likely pathogenic	764495616	RCV000412162\|RCV001850973;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574820	77574820	13:g.77574820G>T	ClinGen:CA16041688	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)	1203	CLN5	Pathogenic/Likely pathogenic	386833983	RCV000049960\|RCV000675522\|RCV001390094;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574830	77574845	13:g.77574830_77574845del	ClinGen:CA263918	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.838_841del (p.Gly280fs)	1203	CLN5	Pathogenic/Likely pathogenic	1555274365	RCV000671450\|RCV001861806;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574864	77574867	13:g.77574864_77574867del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter)	1203	CLN5	Pathogenic/Likely pathogenic	768449493	RCV001243960\|RCV001729819;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574865	77574865	13:g.77574865G>T	-
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)	1203	CLN5	Pathogenic/Likely pathogenic	121908292	RCV000002677\|RCV002512684;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574934	77574934	13:g.77574934G>T	ClinGen:CA252333,OMIM:608102.0005	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)	1203	CLN5	Pathogenic/Likely pathogenic	1555274373	RCV000674729\|RCV002544673;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574943	77574943	13:g.77574943_77574943del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)	1203	CLN5	Pathogenic/Likely pathogenic	750935331	RCV000411598;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574985	77574985	13:g.77574985C>T	ClinGen:CA16041689	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter)	1203	CLN5	Pathogenic/Likely pathogenic	2034349886	RCV001960560\|RCV003471150;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575014	77575014	77575014	-
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter)	1203	CLN5	Pathogenic	764790770	RCV000668838;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566310	77566310	13:g.77566310G>A	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)	1203	CLN5	Pathogenic	104894385	RCV000002674\|RCV000689128;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77566311	77566311	13:g.77566311G>A	ClinGen:CA340000,OMIM:608102.0002	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.83G>A (p.Trp28Ter)	1203	CLN5	Pathogenic	1242337070	RCV001070707\|RCV001729791;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566316	77566316	13:g.77566316G>A	-
NM_006493.4(CLN5):c.112del (p.Val38fs)	1203	CLN5	Pathogenic	2034190303	RCV001217019\|RCV001729815;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566344	77566344	13:g.77566344_77566344del	-
NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr)	1203	CLN5	Pathogenic	1566219136	RCV000761545;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570128	77570128	NC_000013.10:g.77570128G>A	-
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)	1203	CLN5	Pathogenic	546989392	RCV000187069\|RCV000556663\|RCV000613275;	N	MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570145	77570145	NC_000013.10:g.77570145C>T	ClinGen:CA313918	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter)	1203	CLN5	Pathogenic	869312751	RCV000210062\|RCV002282043;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77570244	77570244	13:g.77570244C>T	ClinGen:CA353480,OMIM:608102.0010	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.566-42_*46del	1203	CLN5	Pathogenic	1555274312	RCV000002680;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574551	77575150	NC_000013.10:g.77574551_77575150del	ClinGen:CA252342,OMIM:608102.0008	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.580C>T (p.Gln194Ter)	1203	CLN5	Pathogenic	2154035107	RCV001389234\|RCV001729913;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574607	77574607	77574607	-
NM_006493.4(CLN5):c.639_640insTT (p.Val214fs)	1203	CLN5	Pathogenic	-1	RCV003136483;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574665	77574666	NC_000013.10:g.77574666_77574667insTT	-
NM_006493.4(CLN5):c.772del (p.Arg258fs)	1203	CLN5	Pathogenic	386833982	RCV000049959\|RCV001853062;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574798	77574798	13:g.77574798_77574798del	ClinGen:CA263917	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.812del (p.Asn271fs)	1203	CLN5	Pathogenic	2154035159	RCV001386240\|RCV001729912;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574837	77574837	77574836	-
NM_006493.4(CLN5):c.924_925del (p.Leu309fs)	1203	CLN5	Pathogenic	386833964	RCV000049939\|RCV000724349\|RCV001389657;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574948	77574949	13:g.77574948_77574949del	ClinGen:CA263876	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.936del (p.Phe312fs)	1203	CLN5	Pathogenic	386833966	RCV000049941\|RCV000803462;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574959	77574959	NC_000013.10:g.77574963del	ClinGen:CA263878	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.956_959del (p.Lys319fs)	1203	CLN5	Pathogenic	386833967	RCV000049942\|RCV000632714\|RCV001664236;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:CN517202	13	77574980	77574983	13:g.77574980_77574983del	ClinGen:CA263879	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.965_968del (p.Tyr322fs)	1203	CLN5	Pathogenic	2034349431	RCV001064628\|RCV001336970;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574991	77574994	13:g.77574991_77574994del	-
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter)	1203	CLN5	Pathogenic	386833968	RCV001385483\|RCV001729909;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575017	77575017	77575017	-
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)	1203	CLN5	Pathogenic	386833969	RCV000002673\|RCV000484812\|RCV000684967;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77575053	77575054	13:g.77575053_77575054del	ClinGen:CA339999,OMIM:608102.0001	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.18del (p.Asp6fs)	1203	CLN5	Likely pathogenic	1555273567	RCV000664744;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566251	77566251	13:g.77566251_77566251del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.34G>T (p.Glu12Ter)	1203	CLN5	Likely pathogenic	-1	RCV003468474;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566267	77566267		-
NM_006493.4(CLN5):c.42del (p.Arg15fs)	1203	CLN5	Likely pathogenic	-1	RCV002510732;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566274	77566274	NC_000013.10:g.77566275del	-
NM_006493.4(CLN5):c.73_74delinsG (p.Ser25fs)	1203	CLN5	Likely pathogenic	1057516814	RCV000410812;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566306	77566307	13:g.77566307_77566307del	ClinGen:CA16041685	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.75_81del (p.Trp26fs)	1203	CLN5	Likely pathogenic	-1	RCV003338187;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566307	77566313		-
NM_006493.4(CLN5):c.114_124dup (p.Ser42fs)	1203	CLN5	Likely pathogenic	-1	RCV003468475;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566342	77566343		-
NM_006493.4(CLN5):c.119del (p.Gly40fs)	1203	CLN5	Likely pathogenic	1555273609	RCV000672485;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566350	77566350	13:g.77566350_77566350del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.133_134del (p.Ser45fs)	1203	CLN5	Likely pathogenic	780198002	RCV000409209;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566364	77566365	13:g.77566364_77566365del	ClinGen:CA7007129	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.144dup (p.Ser49fs)	1203	CLN5	Likely pathogenic	386833970	RCV000049945\|RCV001527017;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77566373	77566374	13:g.77566373_77566374insC	ClinGen:CA263883	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.173+1G>A	1203	CLN5	Likely pathogenic	-1	RCV003468478;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566407	77566407		-
NM_006493.4(CLN5):c.174-2A>G	1203	CLN5	Likely pathogenic	2034241585	RCV001194250;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77569196	77569196	13:g.77569196A>G	-
NM_006493.4(CLN5):c.191del (p.Pro64fs)	1203	CLN5	Likely pathogenic	1555273882	RCV000674770;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77569214	77569214	13:g.77569214_77569214del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr)	1203	CLN5	Likely pathogenic	267606738	RCV000002678\|RCV001039257;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77569254	77569254	13:g.77569254G>A	ClinGen:CA252336,OMIM:608102.0006	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.306G>A (p.Trp102Ter)	1203	CLN5	Likely pathogenic	-1	RCV003468479;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77569330	77569330		-
NM_006493.4(CLN5):c.338T>A (p.Leu113Ter)	1203	CLN5	Likely pathogenic	-1	RCV002306665;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77569362	77569362	77569362	-
NM_006493.4(CLN5):c.340-1del	1203	CLN5	Likely pathogenic	1057516390	RCV000409719;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570036	77570036	13:g.77570036_77570036del	ClinGen:CA16041687	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.342_346dup (p.Met116fs)	1203	CLN5	Likely pathogenic	-1	RCV003468470;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570037	77570038		-
NM_006493.4(CLN5):c.350A>C (p.His117Pro)	1203	CLN5	Likely pathogenic	-1	RCV003388909;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570047	77570047		-
NM_006493.4(CLN5):c.361G>A (p.Gly121Arg)	1203	CLN5	Likely pathogenic	-1	RCV003388912;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570058	77570058		-
NM_006493.4(CLN5):c.371del (p.Ser124fs)	1203	CLN5	Likely pathogenic	794729218	RCV000184038\|RCV000989150;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77570068	77570068	13:g.77570068_77570068del	ClinGen:CA275475	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs)	1203	CLN5	Likely pathogenic	386833973	RCV000049950;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570077	77570078	13:g.77570077_77570078insA	ClinGen:CA263894	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.400G>T (p.Glu134Ter)	1203	CLN5	Likely pathogenic	-1	RCV003468473;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570097	77570097		-
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter)	1203	CLN5	Likely pathogenic	386833974	RCV000049951;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570115	77570115	NC_000013.10:g.77570115C>T	ClinGen:CA263895	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)	1203	CLN5	Likely pathogenic	386833975	RCV000049952\|RCV000989151;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77570125	77570125	13:g.77570125A>G	ClinGen:CA263898	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.431_432del (p.Cys144fs)	1203	CLN5	Likely pathogenic	-1	RCV003468476;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570127	77570128		-
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser)	1203	CLN5	Likely pathogenic	386833978	RCV000049955;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570170	77570170	13:g.77570170G>C	ClinGen:CA263907	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.474del (p.Trp158fs)	1203	CLN5	Likely pathogenic	-1	RCV003468471;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570170	77570170		-
NM_006493.4(CLN5):c.525G>A (p.Trp175Ter)	1203	CLN5	Likely pathogenic	-1	RCV003388911;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570222	77570222		-
NM_006493.4(CLN5):c.565+1G>A	1203	CLN5	Likely pathogenic	1555274014	RCV000670302;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570263	77570263	13:g.77570263G>A	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer)	1203	CLN5	Likely pathogenic	1593914689	RCV000790375;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574618	77574621	13:g.77574618_77574621del	-
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)	1203	CLN5	Likely pathogenic	386833981	RCV000049958;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574652	77574652	13:g.77574652T>G	ClinGen:CA263914	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.626A>G (p.Tyr209Cys)	1203	CLN5	Likely pathogenic	-1	RCV003388910;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574653	77574653		-
NM_006493.4(CLN5):c.627T>A (p.Tyr209Ter)	1203	CLN5	Likely pathogenic	-1	RCV003468469;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574654	77574654		-
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)	1203	CLN5	Likely pathogenic	1555274337	RCV000675014;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574691	77574692	13:g.77574691_77574692insCAGAGACA	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.717dup (p.Asn240Ter)	1203	CLN5	Likely pathogenic	-1	RCV003468468;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574741	77574742		-
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter)	1203	CLN5	Likely pathogenic	386833963	RCV000049938;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574906	77574906	13:g.77574906C>A	ClinGen:CA263873	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.906del (p.Glu303fs)	1203	CLN5	Likely pathogenic	1555274369	RCV000672807;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574931	77574931	13:g.77574931_77574931del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.925_926del (p.Leu309fs)	1203	CLN5	Likely pathogenic	386833965	RCV000049940;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574952	77574953	13:g.77574952_77574953del	ClinGen:CA263877	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.969_972del (p.Leu323fs)	1203	CLN5	Likely pathogenic	-1	RCV003468477;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574993	77574996		-
NM_006493.4(CLN5):c.981del (p.Phe327fs)	1203	CLN5	Likely pathogenic	2154035202	RCV001580667;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575005	77575005	77575004	-
NM_006493.4(CLN5):c.995del (p.Leu332fs)	1203	CLN5	Likely pathogenic	1555274387	RCV000668417;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575018	77575018	13:g.77575018_77575018del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.2(CLN5):c.-8G>A	1203	CLN5	Conflicting interpretations of pathogenicity	772316134	RCV000612639\|RCV001109121;	N	MedGen:CN169374\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566079	77566079	13:g.77566079G>A	ClinGen:CA7007061	CN169374 not specified;
NM_006493.2(CLN5):c.1A>C (p.Met1Leu)	1203	CLN5	Conflicting interpretations of pathogenicity	1268502139	RCV000670614\|RCV001438116\|RCV002422455;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77566087	77566087	13:g.77566087A>C	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.2(CLN5):c.1A>G (p.Met1Val)	1203	CLN5	Uncertain significance	1268502139	RCV000668577;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566087	77566087	13:g.77566087A>G	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.-146T>C	1203	CLN5	Conflicting interpretations of pathogenicity	201615354	RCV000711260\|RCV000778400\|RCV000989146\|RCV002316962\|RCV003398802;	N	MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123\|	13	77566088	77566088	13:g.77566088T>C	ClinGen:CA295605	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.2(CLN5):c.2T>A (p.Met1Lys)	1203	CLN5	Conflicting interpretations of pathogenicity	201615354	RCV000187058\|RCV000672217\|RCV002054194;	N	MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77566088	77566088	NC_000013.10:g.77566088T>A	ClinGen:CA313888	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.-144C>T	1203	CLN5	Benign	77416795	RCV000116755\|RCV000337559\|RCV000675514\|RCV001109122\|RCV001272136\|RCV002312076;	N	MedGen:CN169374\|MedGen:CN239251\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77566090	77566090	13:g.77566090C>T	ClinGen:CA152430	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.-141C>T	1203	CLN5	Uncertain significance	759859373	RCV000187059\|RCV000696323\|RCV001785510;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566093	77566093	NC_000013.10:g.77566093C>T	ClinGen:CA313891	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg)	1203	CLN5	Conflicting interpretations of pathogenicity	762873839	RCV000187045\|RCV000814647\|RCV001109123\|RCV002513988;	N	MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77566108	77566108	13:g.77566108G>C	ClinGen:CA313852	CN169374 not specified;
NM_006493.4(CLN5):c.-123C>T	1203	CLN5	Uncertain significance	767048749	RCV000694760\|RCV001275299;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566111	77566111	13:g.77566111C>T	-	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.-113G>T	1203	CLN5	Uncertain significance	1465531119	RCV000699946\|RCV001249271;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566121	77566121	NC_000013.10:g.77566121G>T	-	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.-103G>T	1203	CLN5	Likely benign	777933047	RCV001275300\|RCV001443017;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77566131	77566131	13:g.77566131G>T	-
NM_006493.4(CLN5):c.-97del	1203	CLN5	Conflicting interpretations of pathogenicity	765323914	RCV001004594\|RCV001200389\|RCV001240296\|RCV002337060;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77566134	77566134	13:g.77566134_77566134del	-
NM_006493.4(CLN5):c.-99G>C	1203	CLN5	Conflicting interpretations of pathogenicity	202118652	RCV000187046\|RCV000405110\|RCV000514392\|RCV001083336\|RCV001111453\|RCV002314700;	N	MedGen:CN169374\|MedGen:CN239251\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77566135	77566135	NC_000013.10:g.77566135G>C	ClinGen:CA313855	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.-98G>T	1203	CLN5	Uncertain significance	769990158	RCV001280029;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566136	77566136	13:g.77566136G>T	-
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys)	1203	CLN5	Uncertain significance	773979248	RCV000187060\|RCV000686964\|RCV001785511\|RCV002516985;	N	MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77566138	77566138	NC_000013.10:g.77566138C>A	ClinGen:CA313894	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter)	1203	CLN5	Uncertain significance	773979248	RCV000483404\|RCV000798755\|RCV001785627;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566138	77566138	13:g.77566138C>T	ClinGen:CA7007084	CN169374 not specified;
NM_006493.4(CLN5):c.-94A>T	1203	CLN5	Uncertain significance	767480061	RCV001036174\|RCV001272137;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566140	77566140	13:g.77566140A>T	-
NM_006493.4(CLN5):c.-87C>T	1203	CLN5	Benign/Likely benign	200353554	RCV000187062\|RCV000429471\|RCV000671703\|RCV000989147\|RCV002313021;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77566147	77566147	13:g.77566147C>T	ClinGen:CA238864	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.-83G>T	1203	CLN5	Uncertain significance	576642281	RCV000472414\|RCV001275301;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566151	77566151	NC_000013.10:g.77566151G>T	ClinGen:CA7007087	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.2(CLN5):c.70G>C (p.Gly24Arg)	1203	CLN5	Uncertain significance	-1	RCV003145043;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566156	77566156	NC_000013.10:g.77566156G>C	-
NM_006493.4(CLN5):c.-76A>G	1203	CLN5	Benign/Likely benign	7987664	RCV000081418\|RCV000305280\|RCV000675515\|RCV001111454\|RCV001272138\|RCV002311633;	N	MedGen:CN169374\|MedGen:CN239251\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77566158	77566158	13:g.77566158A>G	ClinGen:CA148516	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter)	1203	CLN5	Conflicting interpretations of pathogenicity	61504484	RCV000187063\|RCV001729446\|RCV001852446\|RCV002327011;	N	MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77566202	77566202	NC_000013.10:g.77566202C>A	ClinGen:CA313900	CN517202 not provided;
NM_006493.2(CLN5):c.116C>G (p.Ser39Trp)	1203	CLN5	Conflicting interpretations of pathogenicity	61504484	RCV000187047\|RCV001058811\|RCV001729445;	N	MedGen:CN169374\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566202	77566202	13:g.77566202C>G	ClinGen:CA313858	CN169374 not specified;
NM_006493.4(CLN5):c.-21G>A	1203	CLN5	Uncertain significance	529998879	RCV000187064\|RCV000819089\|RCV001111455\|RCV002314704;	N	MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77566213	77566213	13:g.77566213G>A	ClinGen:CA313903	CN169374 not specified;
NM_006493.4(CLN5):c.-8G>A	1203	CLN5	Uncertain significance	761576461	RCV001111456;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566226	77566226	13:g.77566226G>A	-
NM_006493.4(CLN5):c.-7C>A	1203	CLN5	Uncertain significance	1555273557	RCV000667197;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566227	77566227	13:g.77566227C>A	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.-4C>T	1203	CLN5	Conflicting interpretations of pathogenicity	587780896	RCV000124330\|RCV000360042\|RCV000711258\|RCV001081887\|RCV001111457\|RCV002316354;	N	MedGen:CN169374\|MedGen:CN239251\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77566230	77566230	13:g.77566230C>T	ClinGen:CA290137	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.3G>A (p.Met1Ile)	1203	CLN5	Uncertain significance	1464891081	RCV001893616\|RCV003146322;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566236	77566236	77566236	-
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)	1203	CLN5	Conflicting interpretations of pathogenicity	146993892	RCV000395302\|RCV000726511\|RCV001082301\|RCV001111458\|RCV001727624\|RCV002317080;	N	MedGen:CN239251\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	13	77566238	77566238	NC_000013.10:g.77566238C>T	ClinGen:CA313861	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup)	1203	CLN5	Uncertain significance	1555273571	RCV000672283;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566259	77566260	13:g.77566259_77566260insGGGCGCCGAGATGCGGCG	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.31G>T (p.Ala11Ser)	1203	CLN5	Uncertain significance	563306322	RCV000482274\|RCV000688642\|RCV001272139;	N	MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566264	77566264	13:g.77566264G>T	ClinGen:CA7007109	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3])	1203	CLN5	Conflicting interpretations of pathogenicity	1409904698	RCV000187049\|RCV000671176\|RCV000795708;	N	MedGen:CN169374\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77566277	77566278	NC_000013.10:g.77566280GCGCGG[3]	ClinGen:CA313864	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp)	1203	CLN5	Uncertain significance	376454715	RCV000187066\|RCV000306509\|RCV000553078\|RCV001111459\|RCV003298245;	N	MedGen:C3661900\|MedGen:CN239251\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77566294	77566294	NC_000013.10:g.77566294C>T	ClinGen:CA313909	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)	1203	CLN5	Conflicting interpretations of pathogenicity	199727787	RCV000187050\|RCV000711259\|RCV000755716\|RCV000989148\|RCV002314701;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77566309	77566309	13:g.77566309T>C	ClinGen:CA313867	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.77G>C (p.Trp26Ser)	1203	CLN5	Uncertain significance	764790770	RCV001280030\|RCV001556431\|RCV001871589;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77566310	77566310	13:g.77566310G>C	-
NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr)	1203	CLN5	Uncertain significance	796052344	RCV000187051\|RCV001248410\|RCV001785508;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566313	77566313	NC_000013.10:g.77566313G>A	ClinGen:CA313870	CN169374 not specified;
NM_006493.4(CLN5):c.87C>G (p.Ala29=)	1203	CLN5	Benign/Likely benign	138037471	RCV000081416\|RCV000234275\|RCV000365818\|RCV000675516\|RCV001113459\|RCV002311632;	N	MedGen:CN169374\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:CN239251\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77566320	77566320	13:g.77566320C>G	ClinGen:CA285659	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.89T>C (p.Leu30Pro)	1203	CLN5	Uncertain significance	2034189535	RCV001280031;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566322	77566322	13:g.77566322T>C	-
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro)	1203	CLN5	Conflicting interpretations of pathogenicity	778982551	RCV000473058\|RCV000726582\|RCV001336971\|RCV002311261;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77566339	77566339	NC_000013.10:g.77566339G>C	ClinGen:CA313912	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.120C>T (p.Gly40=)	1203	CLN5	Likely benign	370320230	RCV000613569\|RCV001348650\|RCV001729651;	N	MedGen:CN169374\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566353	77566353	13:g.77566353C>T	ClinGen:CA7007126	CN169374 not specified;
NM_006493.4(CLN5):c.133T>C (p.Ser45Pro)	1203	CLN5	Uncertain significance	776490903	RCV001113460;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566366	77566366	13:g.77566366T>C	-
NM_006493.4(CLN5):c.136G>T (p.Gly46Cys)	1203	CLN5	Uncertain significance	775102823	RCV000523521\|RCV000807315\|RCV001272140;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566369	77566369	NC_000013.10:g.77566369G>T	ClinGen:CA7007134	CN169374 not specified;
NM_006493.4(CLN5):c.152G>A (p.Arg51His)	1203	CLN5	Uncertain significance	367952803	RCV000725568\|RCV001047274\|RCV001275302\|RCV002314014;	N	MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77566385	77566385	13:g.77566385G>A	ClinGen:CA7007139	CN169374 not specified;
NM_006493.4(CLN5):c.173+5G>A	1203	CLN5	Conflicting interpretations of pathogenicity	2034192763	RCV001224988\|RCV001726454;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77566411	77566411	13:g.77566411G>A	-
NM_006493.4(CLN5):c.173+8C>T	1203	CLN5	Benign	9565308	RCV000116754\|RCV000271170\|RCV000675517\|RCV001113461\|RCV001272141;	N	MedGen:CN169374\|MedGen:CN239251\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77566414	77566414	13:g.77566414C>T	ClinGen:CA152429	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys)	1203	CLN5	Uncertain significance	765773686	RCV000520270\|RCV001226921\|RCV001785653;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77569199	77569199	13:g.77569199C>T	ClinGen:CA388307652	CN169374 not specified;
NM_006493.4(CLN5):c.176G>A (p.Arg59His)	1203	CLN5	Uncertain significance	753197537	RCV000797759\|RCV001272142\|RCV002537054;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77569200	77569200	13:g.77569200G>A	-
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)	1203	CLN5	Conflicting interpretations of pathogenicity	786205211	RCV000170441\|RCV001054069\|RCV002321680;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77569211	77569211	NC_000013.10:g.77569211C>T	ClinGen:CA274758	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)	1203	CLN5	Conflicting interpretations of pathogenicity	104894386	RCV000049946\|RCV000989149;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77569212	77569212	13:g.77569212G>C	ClinGen:CA263884	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)	1203	CLN5	Conflicting interpretations of pathogenicity	1593910113	RCV000791202\|RCV003230275;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0013438,MedGen:C3151140,OMIM:613811, Orphanet:2524	13	77569232	77569232	13:g.77569232T>C	-
NM_006493.4(CLN5):c.224C>G (p.Thr75Ser)	1203	CLN5	Uncertain significance	-1	RCV003145044;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77569248	77569248	NC_000013.10:g.77569248C>G	-
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn)	1203	CLN5	Uncertain significance	138110438	RCV000698534\|RCV000726905\|RCV001272143\|RCV002314702;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77569289	77569289	NC_000013.10:g.77569289G>A	ClinGen:CA313873	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln)	1203	CLN5	Uncertain significance	201068201	RCV001593828\|RCV001832817\|RCV002488427;	N	MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77569311	77569311	77569311	-
NM_006493.4(CLN5):c.339+5G>C	1203	CLN5	Uncertain significance	202146713	RCV000049948\|RCV001257241;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77569368	77569368	13:g.77569368G>C	ClinGen:CA263890	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.342A>G (p.Lys114=)	1203	CLN5	Conflicting interpretations of pathogenicity	770149235	RCV000354768\|RCV001464349\|RCV001729510;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570039	77570039	13:g.77570039A>G	ClinGen:CA7007192	CN169374 not specified;
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn)	1203	CLN5	Uncertain significance	369122820	RCV000187068\|RCV001272144\|RCV000693093\|RCV000766777;	N	MedGen:CN169374\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:CN517202	13	77570068	77570068	NC_000013.10:g.77570068G>A	ClinGen:CA313915	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.381T>G (p.Thr127=)	1203	CLN5	Benign/Likely benign	34481987	RCV000116756\|RCV000312256\|RCV000476942\|RCV000675520\|RCV001113462\|RCV002312077;	N	MedGen:CN169374\|MedGen:CN239251\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77570078	77570078	13:g.77570078T>G	ClinGen:CA288741	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.398T>G (p.Met133Arg)	1203	CLN5	Uncertain significance	1419308949	RCV000784980\|RCV000801114;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77570095	77570095	13:g.77570095T>G	-
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)	1203	CLN5	Conflicting interpretations of pathogenicity	794727507	RCV000724376\|RCV001028014;	N	MedGen:CN517202\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570112	77570112	13:g.77570112T>C	ClinGen:CA243394	CN169374 not specified;
NM_006493.4(CLN5):c.420A>G (p.Gln140=)	1203	CLN5	Conflicting interpretations of pathogenicity	753732321	RCV001202432\|RCV002491605;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570117	77570117	13:g.77570117A>G	-
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg)	1203	CLN5	Conflicting interpretations of pathogenicity	201464545	RCV000414655\|RCV000686723\|RCV001275303;	N	MedGen:CN169374\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570121	77570121	13:g.77570121G>C	ClinGen:CA7007202	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg)	1203	CLN5	Uncertain significance	1593911055	RCV000819484\|RCV001272145;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570127	77570127	13:g.77570127T>C	-
NM_006493.4(CLN5):c.434C>A (p.Thr145Lys)	1203	CLN5	Uncertain significance	-1	RCV002284145;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570131	77570131	77570131	-
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro)	1203	CLN5	Uncertain significance	386833976	RCV000049953\|RCV001044966;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77570143	77570143	13:g.77570143T>C	ClinGen:CA263901	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)	1203	CLN5	Uncertain significance	144656959	RCV000367115\|RCV000536823\|RCV000724910\|RCV001113463\|RCV002314705;	N	MedGen:CN239251\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77570156	77570156	NC_000013.10:g.77570156G>A	ClinGen:CA313921	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser)	1203	CLN5	Conflicting interpretations of pathogenicity	386833977	RCV000049954\|RCV001853061;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77570163	77570163	13:g.77570163C>T	ClinGen:CA263904	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg)	1203	CLN5	Uncertain significance	2154034738	RCV002227866;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570172	77570172	77570172	-
NM_006493.4(CLN5):c.487G>A (p.Ala163Thr)	1203	CLN5	Conflicting interpretations of pathogenicity	148544801	RCV000187061\|RCV001239747\|RCV001272146;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570184	77570184	NC_000013.10:g.77570184G>A	ClinGen:CA313897	CN169374 not specified;
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser)	1203	CLN5	Uncertain significance	748549252	RCV000685999\|RCV001272147;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570187	77570187	13:g.77570187G>T	-	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu)	1203	CLN5	Uncertain significance	142870036	RCV000702222\|RCV000711261\|RCV001785512\|RCV003243011;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:CN517202\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77570223	77570223	13:g.77570223A>G	ClinGen:CA313924	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del)	1203	CLN5	Uncertain significance	1555274012	RCV000669036;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570248	77570256	13:g.77570248_77570256del	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.565+2dup	1203	CLN5	Uncertain significance	1476787722	RCV000671245;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77570263	77570264	13:g.77570263_77570264insT	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.566-7A>G	1203	CLN5	Conflicting interpretations of pathogenicity	772501269	RCV000277190\|RCV000431986\|RCV000981024\|RCV001113464;	N	MedGen:CN239251\|MedGen:CN169374\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574586	77574586	13:g.77574586A>G	ClinGen:CA7007230	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser)	1203	CLN5	Uncertain significance	369100769	RCV000187073\|RCV000473641\|RCV001275304;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574596	77574596	13:g.77574596A>G	ClinGen:CA313927	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.572T>C (p.Met191Thr)	1203	CLN5	Uncertain significance	771119692	RCV001113465\|RCV001368365;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574599	77574599	13:g.77574599T>C	-
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)	1203	CLN5	Conflicting interpretations of pathogenicity	138611001	RCV000178274\|RCV000603044\|RCV000675521\|RCV001082459\|RCV002312551;	N	MedGen:CN169374\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77574606	77574606	13:g.77574606C>A	ClinGen:CA302986	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.642A>T (p.Val214=)	1203	CLN5	Conflicting interpretations of pathogenicity	751496223	RCV000332312\|RCV000440562\|RCV000632739\|RCV001114857\|RCV002418163;	N	MedGen:CN239251\|MedGen:CN169374\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77574669	77574669	13:g.77574669A>T	ClinGen:CA7007238	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala)	1203	CLN5	Uncertain significance	11842935	RCV000459548\|RCV000498752\|RCV001280032\|RCV002318527;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77574683	77574683	NC_000013.10:g.77574683A>C	ClinGen:CA7007241	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg)	1203	CLN5	Uncertain significance	755669847	RCV000481649\|RCV000808669\|RCV001785626;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574688	77574688	NC_000013.10:g.77574688G>C	ClinGen:CA7007242	CN169374 not specified;
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu)	1203	CLN5	Uncertain significance	368428437	RCV000187053\|RCV001242834\|RCV001785509\|RCV002415803;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77574689	77574689	13:g.77574689G>A	ClinGen:CA313876	CN169374 not specified;
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)	1203	CLN5	Conflicting interpretations of pathogenicity	28940280	RCV000002675\|RCV000989152;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574715	77574715	13:g.77574715G>A	ClinGen:CA252327,OMIM:608102.0003	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.704T>C (p.Val235Ala)	1203	CLN5	Uncertain significance	535755345	RCV000550237\|RCV001272148;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574731	77574731	NC_000013.10:g.77574731T>C	ClinGen:CA7007247	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr)	1203	CLN5	Uncertain significance	929479143	RCV001280033\|RCV002269357\|RCV002541727;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574791	77574791	13:g.77574791A>C	-
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile)	1203	CLN5	Uncertain significance	376675270	RCV001114858\|RCV002556251;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574800	77574800	13:g.77574800G>T	-
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn)	1203	CLN5	Uncertain significance	730882146	RCV000161918\|RCV002515118;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574815	77574815	13:g.77574815G>A	ClinGen:CA273763,OMIM:608102.0009	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.806T>G (p.Leu269Arg)	1203	CLN5	Uncertain significance	2034345372	RCV001114859;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574833	77574833	13:g.77574833T>G	-
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser)	1203	CLN5	Uncertain significance	199609750	RCV000230950\|RCV000481695\|RCV001114860;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574839	77574839	NC_000013.10:g.77574839A>G	ClinGen:CA7007264	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.864A>G (p.Ile288Met)	1203	CLN5	Uncertain significance	1375890703	RCV001114861;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574891	77574891	13:g.77574891A>G	-
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile)	1203	CLN5	Uncertain significance	770688728	RCV000483654\|RCV000814083\|RCV001785630;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574896	77574896	NC_000013.10:g.77574896G>T	ClinGen:CA7007269	CN169374 not specified;
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu)	1203	CLN5	Uncertain significance	1060502320	RCV000469030\|RCV000479788\|RCV001785619\|RCV002523317;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:CN517202\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77574931	77574931	NC_000013.10:g.77574931A>G	ClinGen:CA16614338	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.920G>A (p.Ser307Asn)	1203	CLN5	Uncertain significance	1555274374	RCV000658319\|RCV001280034;	N	MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77574947	77574947	13:g.77574947G>A	-	CN517202 not provided;
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)	1203	CLN5	Uncertain significance	201767993	RCV000704165\|RCV001275305\|RCV001585653\|RCV002424701;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	13	77574962	77574962	13:g.77574962T>C	-	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)	1203	CLN5	Benign/Likely benign	1800209	RCV000116751\|RCV000372934\|RCV000610127\|RCV000675523\|RCV001273177\|RCV002312074;	N	MedGen:CN169374\|MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MeSH:D030342,MedGen:C0950123	13	77574983	77574983	13:g.77574983A>G	ClinGen:CA152426	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.963C>T (p.Phe321=)	1203	CLN5	Likely benign	756149425	RCV001277533\|RCV001479893;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77574990	77574990	13:g.77574990C>T	-
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)	1203	CLN5	Conflicting interpretations of pathogenicity	148862100	RCV000002679\|RCV000493479\|RCV001318349;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263	13	77575001	77575001	13:g.77575001A>G	ClinGen:CA252339,OMIM:608102.0007	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys)	1203	CLN5	Conflicting interpretations of pathogenicity	386833968	RCV000049943\|RCV000823474\|RCV001092076;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:C3661900	13	77575017	77575017	NC_000013.10:g.77575017G>T	ClinGen:CA263880	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr)	1203	CLN5	Uncertain significance	745767054	RCV000187057\|RCV000532983\|RCV001114862\|RCV002314703;	N	MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77575046	77575046	NC_000013.10:g.77575046A>C	ClinGen:CA313885	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)	1203	CLN5	Conflicting interpretations of pathogenicity	200637649	RCV000867013\|RCV001114863\|RCV002332798;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77575053	77575053	13:g.77575053A>G	-
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs)	1203	CLN5	Uncertain significance	1555274391	RCV000667852;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575060	77575061	13:g.77575060_77575061insAAAT	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.1041T>C (p.Pro347=)	1203	CLN5	Benign/Likely benign	36038805	RCV000116752\|RCV000259654\|RCV000675524\|RCV001079952\|RCV001109214\|RCV002312075;	N	MedGen:CN169374\|MedGen:CN239251\|MedGen:C3661900\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77575068	77575068	13:g.77575068T>C	ClinGen:CA288735	C0027877 214200 Neuronal ceroid lipofuscinosis;
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser)	1203	CLN5	Uncertain significance	41287036	RCV000116753\|RCV000319549\|RCV000543328\|RCV000678298;	N	MedGen:C3661900\|MedGen:CN239251\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575072	77575072	13:g.77575072C>T	ClinGen:CA288738	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs)	1203	CLN5	Uncertain significance	1555274402	RCV000673636;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575074	77575075	13:g.77575074_77575075insATCA	-	C1850442 256731 Ceroid lipofuscinosis neuronal 5;
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val)	1203	CLN5	Uncertain significance	762333226	RCV000820427\|RCV001546138\|RCV001275306\|RCV002537470;	N	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MedGen:CN517202\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MeSH:D030342,MedGen:C0950123	13	77575075	77575075	13:g.77575075A>G	-
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs)	1203	CLN5	Conflicting interpretations of pathogenicity	796052345	RCV000187074\|RCV001852447\|RCV001729447;	N	MedGen:CN517202\|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730, Orphanet:216, Orphanet:79263\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575090	77575091	13:g.77575090_77575091del	ClinGen:CA313930	CN517202 not provided;
NM_006493.4(CLN5):c.*33A>G	1203	CLN5	Benign/Likely benign	9573974	RCV000374238\|RCV001636886\|RCV001109215;	N	MedGen:CN239251\|MedGen:C3661900\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575137	77575137	13:g.77575137A>G	ClinGen:CA7007298	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*155C>T	1203	CLN5	Benign/Likely benign	700365	RCV000283336\|RCV001109216\|RCV001660629;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900	13	77575259	77575259	13:g.77575259C>T	ClinGen:CA10634502	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*158C>G	1203	CLN5	Benign/Likely benign	111327761	RCV000340633\|RCV001109217\|RCV001690033;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900	13	77575262	77575262	13:g.77575262C>G	ClinGen:CA10643656	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*163G>A	1203	CLN5	Uncertain significance	994401189	RCV001109218;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575267	77575267	13:g.77575267G>A	-
NM_006493.4(CLN5):c.*177A>C	1203	CLN5	Uncertain significance	568174799	RCV000378855\|RCV001109219;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575281	77575281	NC_000013.10:g.77575281A>C	ClinGen:CA10634503	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*180C>T	1203	CLN5	Conflicting interpretations of pathogenicity	700364	RCV000286703\|RCV001109220\|RCV001576894;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900	13	77575284	77575284	13:g.77575284C>T	ClinGen:CA10634506	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*263A>T	1203	CLN5	Uncertain significance	562972188	RCV001111548;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575367	77575367	13:g.77575367A>T	-
NM_006493.4(CLN5):c.*269G>A	1203	CLN5	Likely benign	137867457	RCV001111549\|RCV001545978;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900	13	77575373	77575373	13:g.77575373G>A	-
NM_006493.4(CLN5):c.*292G>A	1203	CLN5	Benign/Likely benign	700363	RCV000344084\|RCV001111550\|RCV001690034;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360\|MedGen:C3661900	13	77575396	77575396	13:g.77575396G>A	ClinGen:CA10643657	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*310T>C	1203	CLN5	Conflicting interpretations of pathogenicity	553934239	RCV000403374\|RCV001111551;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575414	77575414	NC_000013.10:g.77575414T>C	ClinGen:CA10644802	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*468G>C	1203	CLN5	Uncertain significance	752211672	RCV001111552;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575572	77575572	13:g.77575572G>C	-
NM_006493.4(CLN5):c.*609A>G	1203	CLN5	Uncertain significance	1307852062	RCV001111553;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575713	77575713	13:g.77575713A>G	-
NM_006493.4(CLN5):c.*614C>T	1203	CLN5	Uncertain significance	1415756616	RCV001111554;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575718	77575718	13:g.77575718C>T	-
NM_006493.4(CLN5):c.*636A>G	1203	CLN5	Uncertain significance	755618302	RCV001111555;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575740	77575740	13:g.77575740A>G	-
NM_006493.4(CLN5):c.*721G>A	1203	CLN5	Uncertain significance	145949751	RCV000308848\|RCV001113547;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575825	77575825	NC_000013.10:g.77575825G>A	ClinGen:CA10639717	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*833C>T	1203	CLN5	Uncertain significance	926933589	RCV001113548;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77575937	77575937	13:g.77575937C>T	-
NM_006493.4(CLN5):c.*954T>C	1203	CLN5	Uncertain significance	886050317	RCV000396698\|RCV001113549;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77576058	77576058	NC_000013.10:g.77576058T>C	ClinGen:CA10634507	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*963T>G	1203	CLN5	Uncertain significance	569028453	RCV001113550;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77576067	77576067	13:g.77576067T>G	-
NM_006493.4(CLN5):c.*975G>A	1203	CLN5	Uncertain significance	539756080	RCV001113551;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77576079	77576079	13:g.77576079G>A	-
NM_006493.4(CLN5):c.*1132A>G	1203	CLN5	Benign/Likely benign	80200123	RCV000312250\|RCV001113552;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77576236	77576236	NC_000013.10:g.77576236A>G	ClinGen:CA10639718	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*1159G>A	1203	CLN5	Benign	75441116	RCV001113553;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77576263	77576263	13:g.77576263G>A	-
NM_006493.4(CLN5):c.*1169T>C	1203	CLN5	Uncertain significance	573398552	RCV000369306\|RCV001113554;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77576273	77576273	NC_000013.10:g.77576273T>C	ClinGen:CA10639723	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*1279G>C	1203	CLN5	Benign/Likely benign	9635010	RCV000276913\|RCV001114957;	N	MedGen:CN239251\|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77576383	77576383	NC_000013.10:g.77576383G>C	ClinGen:CA10644804	CN239251 Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;
NM_006493.4(CLN5):c.*1490A>G	1203	CLN5	Uncertain significance	771432165	RCV001114958;	N	MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731, Orphanet:168491, Orphanet:228360	13	77576594	77576594	13:g.77576594A>G	-

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