CLN5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	ACOD1, BORA +141 more	Copy number loss	See cases	GPathogenic
Select item 153559	GRCh38/hg38 13q22.2-31.1(chr13:76530209-78531570)x1	ACOD1, CLN5 +50 more	Copy number loss	See cases	GPathogenic
Select item 670727	NM_006493.2(CLN5):c.-115A>G	CLN5	Single nucleotide variant	not provided	GBenign
Select item 649631	NC_000013.11:g.(?_76991932)_(77000989_?)del	CLN5, LOC126861804 +1 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 383692	NM_006493.2(CLN5):c.-11G>C	CLN5	Single nucleotide variant	not specified	GLikely benign
Select item 515683	NM_006493.2(CLN5):c.-8G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 554902	NC_000013.11:g.76991952A>C	CLN5	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 553182	NM_006493.2(CLN5):c.1A>G (p.Met1Val)	CLN5	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 205134	NC_000013.11:g.76991953T>A	CLN5	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 166884	NM_006493.4(CLN5):c.-146T>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +4 more	GConflicting classifications of pathogenicity
Select item 128782	NM_006493.4(CLN5):c.-144C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +5 more	GBenign
Select item 205121	NM_006493.2(CLN5):c.5G>C (p.Arg2Pro)	CLN5	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2045537	NC_000013.11:g.76991957C>G	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 205135	NM_006493.4(CLN5):c.-141C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 2109422	NM_006493.2(CLN5):c.10_22delAACCTGCGCTTGG (p.Asn4Glyfs)	CLN5	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1455299	NC_000013.11:g.76991960G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1501450	NC_000013.11:g.76991961A>T	CLN5 (N4Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1304983	NM_006493.2(CLN5):c.14T>C (p.Leu5Pro)	CLN5 (L5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107977	NC_000013.11:g.76991966G>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1545241	NC_000013.11:g.76991966G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1713862	NC_000013.11:g.76991967C>A	CLN5 (R6S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 661654	NC_000013.11:g.76991968G>T	CLN5 (R6L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1657505	NC_000013.11:g.76991969C>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1612774	NC_000013.11:g.76991969C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3010377	NC_000013.11:g.76991970T>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2070797	NC_000013.11:g.76991971T>C	CLN5 (L7S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205122	NC_000013.11:g.76991973G>C	CLN5	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193341	NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp)	CLN5	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 1430492	NC_000013.11:g.76991974G>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2860237	NC_000013.11:g.76991975G>T	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 515004	NC_000013.11:g.76991975G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 2415686	NC_000013.11:g.76991976C>A	CLN5 (P9T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 573164	NC_000013.11:g.76991976C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2008395	NC_000013.11:g.76991982T>A	CLN5 (S11T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1930642	NC_000013.11:g.76991982T>G	CLN5 (S11A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1010412	NC_000013.11:g.76991982T>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2148449	NC_000013.11:g.76991983C>G	CLN5 (S11C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2131763	NC_000013.11:g.76991984T>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1439867	NC_000013.11:g.76991986G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 577247	NM_006493.4(CLN5):c.-113G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2094215	NC_000013.11:g.76991987A>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2757014	NC_000013.11:g.76991990T>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 729806	NM_006493.4(CLN5):c.-109T>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1391726	NC_000013.11:g.76991993C>G	CLN5 (D14E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1113031	NC_000013.11:g.76991993C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2845804	NC_000013.11:g.76991996G>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2141261	NC_000013.11:g.76991996G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 703743	NM_006493.4(CLN5):c.-103G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2790860	NC_000013.11:g.76991999G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 813489	NM_006493.4(CLN5):c.-97del	CLN5	Deletion	Neuronal ceroid lipofuscinosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 964504	NM_006493.4(CLN5):c.-99G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205123	NM_006493.4(CLN5):c.-99G>C	CLN5	Single nucleotide variant	not provided +5 more	GConflicting classifications of pathogenicity
Select item 991763	NM_006493.4(CLN5):c.-98G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 854290	NC_000013.11:g.76992001G>A	CLN5 (G17E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 420530	NM_006493.2(CLN5):c.50G>C (p.Gly17Ala)	CLN5	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2766299	NC_000013.11:g.76992002G>T	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1960114	NC_000013.11:g.76992002G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 699547	NC_000013.11:g.76992002G>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 962497	NM_006493.4(CLN5):c.-96C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 421520	NM_006493.4(CLN5):c.-96C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 205136	NC_000013.11:g.76992003C>A	CLN5	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 845413	NC_000013.11:g.76992004A>G	CLN5 (Q18R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2849207	NC_000013.11:g.76992005A>C	CLN5 (Q18H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 835320	NM_006493.4(CLN5):c.-94A>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 377689	NC_000013.11:g.76992005A>G	CLN5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 387082	NC_000013.11:g.76992008C>A	CLN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 193342	NM_006493.4(CLN5):c.-87C>T	CLN5	Single nucleotide variant	not provided +4 more	GBenign/Likely benign
Select item 1059382	NC_000013.11:g.76992013C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 457965	NM_006493.4(CLN5):c.-86C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1627433	NC_000013.11:g.76992014G>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2180029	NM_006493.2(CLN5):c.64C>T (p.Arg22Cys)	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1947707	NC_000013.11:g.76992015C>G	CLN5 (R22G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 643424	NM_006493.4(CLN5):c.-84C>A	CLN5	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance

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