CLN3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59990	GRCh38/hg38 16p12.1-11.2(chr16:28061312-28584375)x3	APOBR, CLN3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 153260	GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3	APOBR, ATP2A1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 148782	GRCh38/hg38 16p12.1-11.2(chr16:28327346-29342070)x1	ATP2A1, APOBR +70 more	Copy number loss	See cases	GPathogenic
Select item 545197	NC_000016.10:g.(?_28351819)_(29325073_?)del	APOBR, ATP2A1 +68 more	Deletion	Schizophrenia	GPathogenic
Select item 60446	GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	LOC125146439, LOC125146440 +179 more	Copy number gain	See cases	GPathogenic
Select item 150351	GRCh38/hg38 16p12.1-11.2(chr16:28392026-29170879)x3	APOBR, ATP2A1 +61 more	Copy number gain	See cases	GUncertain significance
Select item 152023	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29170875)x1	APOBR, ATP2A1 +61 more	Copy number loss	See cases	GPathogenic
Select item 151177	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	ALDOA, APOBR +187 more	Copy number loss	See cases	GPathogenic
Select item 150642	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29320029)x1	APOBR, ATP2A1 +66 more	Copy number loss	See cases	GPathogenic
Select item 148886	GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1	APOBR, ATP2A1 +67 more	Copy number loss	See cases	GPathogenic
Select item 148506	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	ALDOA, APOBR +180 more	Copy number loss	See cases	GPathogenic
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 652953	NC_000016.9:g.(?_28486664)_(28489218_?)dup	CLN3	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 583689	NC_000016.9:g.(?_28486664)_(28503100_?)dup	CLN3	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 318709	NM_001042432.2(CLN3):c.*205G>A	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GUncertain significance
Select item 318710	NM_001042432.2(CLN3):c.*200A>G	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GUncertain significance
Select item 886661	NM_001042432.2(CLN3):c.*187G>A	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 318711	NM_001042432.2(CLN3):c.*155A>C	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 3 +1 more	GLikely benign
Select item 887913	NM_001042432.2(CLN3):c.*111G>T	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 318712	NM_001042432.2(CLN3):c.*99C>T	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +2 more	GConflicting classifications of pathogenicity
Select item 318713	NM_001042432.2(CLN3):c.*78G>A	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GUncertain significance
Select item 887914	NM_001042432.2(CLN3):c.*58A>C	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 3	GUncertain significance
Select item 318714	NM_001042432.2(CLN3):c.*55C>A	CLN3	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +1 more	GUncertain significance
Select item 318715	NM_001042432.2(CLN3):c.*29A>G	CLN3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 642645	NC_000016.9:g.(?_28488817)_(28489218_?)dup	CLN3	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1161150	NM_001042432.2(CLN3):c.1316G>A (p.Ter439=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 426421	NM_001042432.2(CLN3):c.1309C>T (p.Leu437Phe)	CLN3 (L437F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 658557	NM_001042432.2(CLN3):c.1305C>G (p.Cys435Trp)	CLN3 (C411W +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1620910	NM_001042432.2(CLN3):c.1302C>A (p.Leu434=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2861535	NM_001042432.2(CLN3):c.1293T>C (p.His431=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 527745	NM_001042432.2(CLN3):c.1291C>T (p.His431Tyr)	CLN3 (H431Y +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1114848	NM_001042432.2(CLN3):c.1288C>T (p.Leu430=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 585706	NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser)	CLN3 (P429S +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 3 +2 more	GUncertain significance
Select item 1148783	NM_001042432.2(CLN3):c.1284G>A (p.Leu428=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 647269	NM_001042432.2(CLN3):c.1276C>G (p.Leu426Val)	CLN3 (L402V +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1117479	NM_001042432.2(CLN3):c.1272G>A (p.Gly424=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 56256	NM_001042432.2(CLN3):c.1272del (p.Leu425fs)	CLN3 (L325fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 590095	NM_001042432.2(CLN3):c.1269G>A (p.Ser423=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 1991586	NM_001042432.2(CLN3):c.1267dup (p.Ser423fs)	CLN3 (S345fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1213979	NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu)	CLN3 (S323L +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 56255	NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter)	CLN3 (S423* +4 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 2154691	NM_001042432.2(CLN3):c.1266G>A (p.Leu422=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1002045	NM_001042432.2(CLN3):c.1265T>C (p.Leu422Pro)	CLN3 (L322P +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1079089	NM_001042432.2(CLN3):c.1263C>T (p.Ser421=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 205103	NM_001042432.2(CLN3):c.1262C>T (p.Ser421Phe)	CLN3 (S421F +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1513230	NM_001042432.2(CLN3):c.1257G>T (p.Gly419=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 205102	NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu)	CLN3 (G419E +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 808022	NM_001042432.2(CLN3):c.1250C>T (p.Thr417Ile)	CLN3 (T339I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 574901	NM_001042432.2(CLN3):c.1249A>G (p.Thr417Ala)	CLN3 (T417A +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2729506	NM_001042432.2(CLN3):c.1246_1247dup (p.Asp416fs)	CLN3 (D338fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 56252	NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)	CLN3 (D416G +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 1108034	NM_001042432.2(CLN3):c.1242C>T (p.Ile414=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 582340	NM_001042432.2(CLN3):c.1240A>G (p.Ile414Val)	CLN3 (I414V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2808592	NM_001042432.2(CLN3):c.1236C>T (p.Thr412=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 421549	NM_001042432.2(CLN3):c.1234A>G (p.Thr412Ala)	CLN3 (T412A +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1112919	NM_001042432.2(CLN3):c.1233C>T (p.Ala411=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2759236	NM_001042432.2(CLN3):c.1231G>T (p.Ala411Ser)	CLN3 (A333S +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 136785	NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +4 more	GConflicting classifications of pathogenicity
Select item 970262	NM_001042432.2(CLN3):c.1229C>T (p.Ala410Val)	CLN3 (A310V +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205101	NM_001042432.2(CLN3):c.1225A>G (p.Met409Val)	CLN3 (M409V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1616019	NM_001042432.2(CLN3):c.1215G>C (p.Arg405=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 965707	NM_001042432.2(CLN3):c.1214G>A (p.Arg405Gln)	CLN3 (R305Q +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 418137	NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)	CLN3 (R405W +4 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 389319	NM_001042432.2(CLN3):c.1213C>A (p.Arg405=)	CLN3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 128776	NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)	CLN3 (H404R +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +5 more	GBenign/Likely benign
Select item 421929	NM_001042432.2(CLN3):c.1210C>T (p.His404Tyr)	CLN3 (H404Y +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 128775	NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)	CLN3 (H404N +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +5 more	GConflicting classifications of pathogenicity
Select item 318716	NM_001042432.2(CLN3):c.1209G>A (p.Glu403=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 3 +3 more	GConflicting classifications of pathogenicity
Select item 1308406	NM_001042432.2(CLN3):c.1205A>G (p.Asp402Gly)	CLN3 (D302G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968834	NM_001042432.2(CLN3):c.1204G>A (p.Asp402Asn)	CLN3 (D302N +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 588067	NM_001042432.2(CLN3):c.1203T>A (p.Ser401Arg)	CLN3 (S401R +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 1539176	NM_001042432.2(CLN3):c.1200C>A (p.Thr400=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 669734	NM_001042432.2(CLN3):c.1200C>T (p.Thr400=)	CLN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 56251	NM_001042432.2(CLN3):c.1198-1G>T	CLN3	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1076288	NM_001042432.2(CLN3):c.1198-2A>C	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 1462007	NM_001042432.2(CLN3):c.1198-3C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2736155	NM_001042432.2(CLN3):c.1198-4C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 287485	NM_001042432.2(CLN3):c.1198-5C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 1104007	NM_001042432.2(CLN3):c.1198-7C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2824655	NM_001042432.2(CLN3):c.1198-8C>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1533624	NM_001042432.2(CLN3):c.1198-9C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1136766	NM_001042432.2(CLN3):c.1198-10G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1081630	NM_001042432.2(CLN3):c.1198-10G>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 515236	NM_001042432.2(CLN3):c.1198-14C>G	CLN3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2161666	NM_001042432.2(CLN3):c.1198-16C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 388427	NM_001042432.2(CLN3):c.1198-17G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 2780924	NM_001042432.2(CLN3):c.1198-19C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2769844	NM_001042432.2(CLN3):c.1198-19C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3015595	NM_001042432.2(CLN3):c.1197+18A>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1606742	NM_001042432.2(CLN3):c.1197+17C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2165693	NM_001042432.2(CLN3):c.1197+16G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign

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