CLN6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +73 more	Copy number loss	See cases	GPathogenic
Select item 150252	GRCh38/hg38 15q23(chr15:67933759-68766493)x3	CALML4, CLN6 +23 more	Copy number gain	See cases	GLikely benign
Select item 369098	NM_017882.2(CLN6):c.*1157A>G	CLN6	Single nucleotide variant	Neuronal Ceroid-Lipofuscinosis, Recessive	GBenign
Select item 886951	NM_017882.3(CLN6):c.*1109G>A	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316966	NM_017882.3(CLN6):c.*1103G>A	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 886952	NM_017882.3(CLN6):c.*1023G>A	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316967	NM_017882.3(CLN6):c.*1015T>C	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GBenign
Select item 888213	NM_017882.3(CLN6):c.*991C>A	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316968	NM_017882.3(CLN6):c.*934G>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 316969	NM_017882.3(CLN6):c.*887G>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 888214	NM_017882.3(CLN6):c.*882C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316970	NM_017882.3(CLN6):c.*817C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GBenign
Select item 888215	NM_017882.3(CLN6):c.*749T>C	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316971	NM_017882.3(CLN6):c.*725C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GBenign
Select item 316972	NM_017882.3(CLN6):c.*690A>G	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GBenign
Select item 316973	NM_017882.3(CLN6):c.*667G>A	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GBenign
Select item 885099	NM_017882.3(CLN6):c.*655C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 316974	NM_017882.3(CLN6):c.*646C>G	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 316975	NM_017882.3(CLN6):c.*532T>A	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316976	NM_017882.3(CLN6):c.*526A>G	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 885100	NM_017882.3(CLN6):c.*481T>G	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316977	NM_017882.3(CLN6):c.*470C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 885101	NM_017882.3(CLN6):c.*446C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 886012	NM_017882.3(CLN6):c.*393G>A	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 886013	NM_017882.3(CLN6):c.*345C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 886014	NM_017882.3(CLN6):c.*312C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316978	NM_017882.3(CLN6):c.*300C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 886015	NM_017882.3(CLN6):c.*284C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316979	NM_017882.3(CLN6):c.*264T>C	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316980	NM_017882.3(CLN6):c.*246G>A	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316981	NM_017882.3(CLN6):c.*224T>C	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316982	NM_017882.3(CLN6):c.*179G>C	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316983	NM_017882.3(CLN6):c.*175C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1193056	NM_017882.3(CLN6):c.*141GT[14]	CLN6	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 316986	NM_017882.3(CLN6):c.*141GT[13]	CLN6	Microsatellite (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign/Likely benign
Select item 316985	NM_017882.3(CLN6):c.*141GT[12]	CLN6	Microsatellite (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 316984	NM_017882.3(CLN6):c.*141GT[11]	CLN6	Microsatellite (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 3033916	NM_017882.3(CLN6):c.*141GT[7]	CLN6	Microsatellite (3 prime UTR variant)	CLN6-related disorder	GLikely benign
Select item 1200549	NM_017882.3(CLN6):c.*141GT[9]	CLN6	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 316987	NM_017882.3(CLN6):c.*141GT[8]	CLN6	Microsatellite (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 3030847	NM_017882.3(CLN6):c.*151G>A	CLN6	Single nucleotide variant (3 prime UTR variant)	CLN6-related disorder	GLikely benign
Select item 316988	NM_017882.3(CLN6):c.140_143del	CLN6	Deletion (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 316989	NM_017882.3(CLN6):c.*132C>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 316990	NM_017882.3(CLN6):c.*131G>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 316991	NM_017882.3(CLN6):c.*88G>A	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 887014	NM_017882.3(CLN6):c.*75G>C	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 316992	NM_017882.3(CLN6):c.*69G>T	CLN6	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 887015	NM_017882.3(CLN6):c.*42T>G	CLN6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1181938	NM_017882.3(CLN6):c.*38A>G	CLN6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1215116	NM_017882.3(CLN6):c.*30T>G	CLN6	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3065115	NM_017882.3(CLN6):c.934T>C (p.Ter312Arg)	CLN6	Single nucleotide variant (stop lost)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 582187	NM_017882.3(CLN6):c.929G>A (p.Arg310Gln)	CLN6 (R310Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2040377	NM_017882.3(CLN6):c.928C>T (p.Arg310Trp)	CLN6 (R310W +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1425357	NM_017882.3(CLN6):c.925A>C (p.Ser309Arg)	CLN6 (S309R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 950194	NM_017882.3(CLN6):c.925A>G (p.Ser309Gly)	CLN6 (S309G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 743899	NM_017882.3(CLN6):c.924C>T (p.Ser308=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 198573	NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)	CLN6 (S308T)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +7 more	GConflicting classifications of pathogenicity
Select item 1495677	NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg)	CLN6 (S308R)	Indel (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1436886	NM_017882.3(CLN6):c.919G>A (p.Val307Ile)	CLN6 (V307I)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +2 more	GUncertain significance
Select item 849027	NM_017882.3(CLN6):c.919G>T (p.Val307Phe)	CLN6 (V307F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 511333	NM_017882.3(CLN6):c.918C>T (p.His306=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 2123051	NM_017882.3(CLN6):c.915del (p.His306fs)	CLN6 (H306fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1975796	NM_017882.3(CLN6):c.912C>G (p.Thr304=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 415536	NM_017882.3(CLN6):c.912C>T (p.Thr304=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 556824	NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter)	CLN6 (Y303*)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 423701	NM_017882.3(CLN6):c.902C>G (p.Ala301Gly)	CLN6 (A301G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374774	NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)	CLN6 (W300R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1199253	NM_017882.3(CLN6):c.896C>A (p.Pro299His)	CLN6 (P299H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 550973	NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	CLN6 (P299L)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GPathogenic/Likely pathogenic
Select item 1090642	NM_017882.3(CLN6):c.894G>A (p.Glu298=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 68098	NM_017882.3(CLN6):c.890del (p.Pro297fs)	CLN6 (P297fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2693303	NM_017882.3(CLN6):c.888C>T (p.Val296=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1441369	NM_017882.3(CLN6):c.886G>A (p.Val296Ile)	CLN6 (V296I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 702928	NM_017882.3(CLN6):c.885C>T (p.Tyr295=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1184006	NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys)	CLN6 (Y295C)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 2671681	NM_017882.3(CLN6):c.883T>C (p.Tyr295His)	CLN6 (Y295H +1 more)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 2990692	NM_017882.3(CLN6):c.879C>T (p.Val293=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 512167	NM_017882.3(CLN6):c.876T>C (p.Gly292=)	CLN6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2087618	NM_017882.3(CLN6):c.875G>C (p.Gly292Ala)	CLN6 (G292A +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1303625	NM_017882.3(CLN6):c.875G>A (p.Gly292Asp)	CLN6 (G292D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771270	NM_017882.3(CLN6):c.872dup (p.Val293fs)	CLN6 (V293fs +1 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 384955	NM_017882.3(CLN6):c.873G>A (p.Pro291=)	CLN6	Single nucleotide variant (synonymous variant)	CLN6-related disorder +2 more	GLikely benign
Select item 1433683	NM_017882.3(CLN6):c.872C>T (p.Pro291Leu)	CLN6 (P291L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 514534	NM_017882.3(CLN6):c.870C>T (p.Tyr290=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 1707855	NM_017882.3(CLN6):c.866A>G (p.Lys289Arg)	CLN6 (K289R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149648	NM_017882.3(CLN6):c.864G>T (p.Lys288Asn)	CLN6 (K320N +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1443993	NM_017882.3(CLN6):c.859A>T (p.Arg287Trp)	CLN6 (R287W)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2696573	NM_017882.3(CLN6):c.858C>G (p.Leu286=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 797604	NM_017882.3(CLN6):c.858C>T (p.Leu286=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2816709	NM_017882.3(CLN6):c.852T>A (p.Pro284=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1614363	NM_017882.3(CLN6):c.852T>C (p.Pro284=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 663907	NM_017882.3(CLN6):c.850C>T (p.Pro284Ser)	CLN6 (P284S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1439932	NM_017882.3(CLN6):c.849C>A (p.Asp283Glu)	CLN6 (D283E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 3065628	NM_017882.3(CLN6):c.843G>A (p.Trp281Ter)	CLN6 (W281* +1 more)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 2580702	NM_017882.3(CLN6):c.843G>C (p.Trp281Cys)	CLN6 (W281C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2112860	NM_017882.3(CLN6):c.840G>C (p.Leu280=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 415533	NM_017882.3(CLN6):c.840G>A (p.Leu280=)	CLN6	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2092212	NM_017882.3(CLN6):c.838C>A (p.Leu280Met)	CLN6 (L280M +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 803104	NM_017882.3(CLN6):c.837del (p.Trp279fs)	CLN6 (W279fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic

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