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 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	LOC130009739, LOC130009740 +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	LOC130009911, LOC130009912 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009913, LOC130009914 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LOC130009813, LOC130009814 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009962, LOC130009963 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ABCC4, ABHD13 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	MIR20A, MIR3169 +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	ACOD1, ALG11 +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	LOC110120950, LOC110121360 +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_006493.1(CLN5):c.-115G=	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	not specified +1 more	GConflicting classifications of pathogenicity
Select item 554902	NM_006493.2(CLN5):c.1A>C (p.Met1Leu)	CLN5	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +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	NM_006493.2(CLN5):c.2T>A (p.Met1Lys)	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	CLN5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 128782	NM_006493.4(CLN5):c.-144C>T	CLN5	Single nucleotide variant	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +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	NM_006493.2(CLN5):c.6C>G (p.Arg2=)	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	NM_006493.2(CLN5):c.10A>T (p.Asn4Tyr)	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	NM_006493.2(CLN5):c.15G>C (p.Leu5=)	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	NM_006493.2(CLN5):c.16C>A (p.Arg6Ser)	CLN5 (R6S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 661654	NM_006493.2(CLN5):c.17G>T (p.Arg6Leu)	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	NM_006493.2(CLN5):c.19T>C (p.Leu7=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2070797	NM_006493.2(CLN5):c.20T>C (p.Leu7Ser)	CLN5 (L7S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205122	NM_006493.2(CLN5):c.22G>C (p.Gly8Arg)	CLN5	Single nucleotide variant (missense variant)	Inborn genetic diseases +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	NM_006493.2(CLN5):c.24G>T (p.Gly8=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 515004	NM_006493.2(CLN5):c.24G>A (p.Gly8=)	CLN5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2415686	NM_006493.2(CLN5):c.25C>A (p.Pro9Thr)	CLN5 (P9T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 573164	NM_006493.4(CLN5):c.-123C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2008395	NM_006493.2(CLN5):c.31T>A (p.Ser11Thr)	CLN5 (S11T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1930642	NM_006493.2(CLN5):c.31T>G (p.Ser11Ala)	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	NM_006493.2(CLN5):c.32C>G (p.Ser11Cys)	CLN5 (S11C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2131763	NM_006493.2(CLN5):c.33T>C (p.Ser11=)	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	NM_006493.2(CLN5):c.36A>C (p.Gly12=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2757014	NM_006493.2(CLN5):c.39T>C (p.Ala13=)	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	NM_006493.2(CLN5):c.42C>G (p.Asp14Glu)	CLN5 (D14E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +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	NM_006493.2(CLN5):c.45G>C (p.Ala15=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2141261	NM_006493.2(CLN5):c.45G>A (p.Ala15=)	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	NM_006493.2(CLN5):c.48G>A (p.Gln16=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 813489	NM_006493.4(CLN5):c.-97del	CLN5	Deletion	Inborn genetic diseases +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	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +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	NM_006493.2(CLN5):c.50G>A (p.Gly17Glu)	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)	not provided +1 more	GUncertain significance
Select item 2766299	NM_006493.2(CLN5):c.51G>T (p.Gly17=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1960114	NM_006493.2(CLN5):c.51G>A (p.Gly17=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 699547	NM_006493.2(CLN5):c.51G>C (p.Gly17=)	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	not provided +1 more	GUncertain significance
Select item 421520	NM_006493.2(CLN5):c.52C>T (p.Gln18Ter)	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 205136	NM_006493.2(CLN5):c.52C>A (p.Gln18Lys)	CLN5	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 845413	NM_006493.2(CLN5):c.53A>G (p.Gln18Arg)	CLN5 (Q18R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2849207	NM_006493.2(CLN5):c.54A>C (p.Gln18His)	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	NM_006493.2(CLN5):c.54A>G (p.Gln18=)	CLN5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 387082	NM_006493.2(CLN5):c.57C>A (p.Gly19=)	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	CLN5-related condition +5 more	GBenign/Likely benign
Select item 1059382	NM_006493.4(CLN5):c.-86C>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	NM_006493.2(CLN5):c.64C>G (p.Arg22Gly)	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	Neuronal ceroid lipofuscinosis	GUncertain significance

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