ClinVar for Gene (Select 2055) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063018	GRCh37/hg19 8p23.3-23.2(chr8:158048-5813459)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3023633	NM_018941.4(CLN8):c.291T>C (p.Arg97=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3018475	NM_018941.4(CLN8):c.90T>G (p.Ala30=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3017337	NM_018941.4(CLN8):c.544-5T>C	CLN8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3017188	NM_018941.4(CLN8):c.327A>G (p.Thr109=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3006075	NM_018941.4(CLN8):c.39T>A (p.Ile13=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3000871	NM_018941.4(CLN8):c.258G>A (p.Leu86=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2968153	NM_018941.4(CLN8):c.810C>G (p.Ala270=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2918678	NM_018941.4(CLN8):c.544-15C>T	CLN8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2918196	NM_018941.4(CLN8):c.544-19T>G	CLN8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2897142	NM_018941.4(CLN8):c.510G>C (p.Thr170=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2880973	NM_018941.4(CLN8):c.561T>A (p.Ser187=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2877879	NM_018941.4(CLN8):c.135G>C (p.Leu45=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2857571	NM_018941.4(CLN8):c.543+12C>G	CLN8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2853660	NM_018941.4(CLN8):c.834G>A (p.Gly278=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2849631	NM_018941.4(CLN8):c.561T>C (p.Ser187=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2843657	NM_018941.4(CLN8):c.555del (p.Glu186fs)	CLN8 (E186fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2839708	NM_018941.4(CLN8):c.324G>T (p.Thr108=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2830806	NM_018941.4(CLN8):c.675C>T (p.Ser225=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2830662	NM_018941.4(CLN8):c.697C>T (p.Leu233=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2830444	NM_018941.4(CLN8):c.612C>T (p.Arg204=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2829803	NM_018941.4(CLN8):c.93C>T (p.Gly31=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2829208	NM_018941.4(CLN8):c.544-2A>C	CLN8	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2824675	NM_018941.4(CLN8):c.377T>A (p.Leu126Ter)	CLN8 (L126*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2812962	NM_018941.4(CLN8):c.513C>A (p.Pro171=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2812712	NM_018941.4(CLN8):c.496C>T (p.Leu166=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2810036	NM_018941.4(CLN8):c.405G>A (p.Leu135=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2806800	NM_018941.4(CLN8):c.429T>C (p.Phe143=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2799315	NM_018941.4(CLN8):c.618T>G (p.Val206=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2772387	NM_018941.4(CLN8):c.369G>A (p.Leu123=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2769415	NM_018941.4(CLN8):c.543+19A>C	CLN8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2759339	NM_018941.4(CLN8):c.12G>C (p.Ala4=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2757008	NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)	CLN8 (Y209*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2755089	NM_018941.4(CLN8):c.543+13A>C	CLN8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2753375	NM_018941.4(CLN8):c.315del (p.His106fs)	CLN8 (H106fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2752835	NM_018941.4(CLN8):c.855G>A (p.Arg285=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2749928	NM_018941.4(CLN8):c.1A>T (p.Met1Leu)	CLN8 (M1L)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2748417	NM_018941.4(CLN8):c.160del (p.Arg54fs)	CLN8 (R54fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2747381	NM_018941.4(CLN8):c.548del (p.Gly183fs)	CLN8 (G183fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2730749	NM_018941.4(CLN8):c.246G>T (p.Leu82=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2724039	NM_018941.4(CLN8):c.544-8C>A	CLN8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2712146	NM_018941.4(CLN8):c.384C>T (p.Phe128=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2709460	NM_018941.4(CLN8):c.663C>A (p.Gly221=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2706524	NM_018941.4(CLN8):c.543+12_543+20dup	CLN8	Duplication (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2702436	NM_018941.4(CLN8):c.861G>A (p.Ter287=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2700855	NM_018941.4(CLN8):c.366C>T (p.His122=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2693725	NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)	CLN8 (T26S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2693723	NM_018941.4(CLN8):c.68_76del (p.Ile23_Ser25del)	CLN8	Deletion (inframe_deletion)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2693100	NM_018941.4(CLN8):c.530G>A (p.Trp177Ter)	CLN8 (W177*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2688795	NM_018941.4(CLN8):c.601T>A (p.Phe201Ile)	CLN8 (F201I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +1 more	GUncertain significance
Select item 2685287	GRCh37/hg19 8p23.3(chr8:1603859-2121197)x1	KBTBD11, ARHGEF10 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2685284	GRCh37/hg19 8p23.3(chr8:158049-2190480)x1	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685283	GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1	DEFB104A, DEFB104B +39 more	Copy number loss	not provided	GPathogenic
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB104B, DEFB105A +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2685280	GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1	CLN8, CSMD1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2684515	GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3	AGPAT5, ANGPT2 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2684514	GRCh37/hg19 8p23.3-23.2(chr8:158049-5762015)x3	ARHGEF10, CLN8 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2671622	Single allele	AGPAT5, ANGPT2 +22 more	Deletion	not provided	GPathogenic
Select item 2663133	NM_018941.4(CLN8):c.80T>C (p.Leu27Pro)	CLN8 (L27P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2627629	NM_018941.4(CLN8):c.607T>C (p.Cys203Arg)	CLN8 (C203R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8	GLikely pathogenic
Select item 2627618	NM_018941.4(CLN8):c.424dup (p.Ala142fs)	CLN8 (A142fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 8	GPathogenic
Select item 2627378	NM_018941.4(CLN8):c.447C>A (p.Cys149Ter)	CLN8 (C149*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 8	GPathogenic
Select item 2580354	GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1	TDRP, ZNF596 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2560281	NM_018941.4(CLN8):c.801G>T (p.Gln267His)	CLN8 (Q267H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539035	NM_018941.4(CLN8):c.353A>G (p.Asn118Ser)	CLN8 (N118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503808	NM_018941.4(CLN8):c.43del (p.Asp15fs)	CLN8 (D15fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2440147	NM_018941.4(CLN8):c.544-3C>T	CLN8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2426499	NC_000008.10:g.(?_1719221)_(1728733_?)dup	CLN8	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2417473	NM_018941.4(CLN8):c.163T>G (p.Ser55Ala)	CLN8 (S55A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2414652	NM_018941.4(CLN8):c.797C>T (p.Ala266Val)	CLN8 (A266V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2285052	NM_018941.4(CLN8):c.544-6A>T	CLN8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 2192272	NM_018941.4(CLN8):c.636G>C (p.Trp212Cys)	CLN8 (W212C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2191327	NM_018941.4(CLN8):c.345C>T (p.Cys115=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2189610	NM_018941.4(CLN8):c.268G>T (p.Val90Leu)	CLN8 (V90L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2187547	NM_018941.4(CLN8):c.650G>C (p.Trp217Ser)	CLN8 (W217S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2181011	NM_018941.4(CLN8):c.606C>G (p.His202Gln)	CLN8 (H202Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2179296	NM_018941.4(CLN8):c.543+5G>C	CLN8	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2174621	NM_018941.4(CLN8):c.743A>G (p.Tyr248Cys)	CLN8 (Y248C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2168382	NM_018941.4(CLN8):c.159C>A (p.Tyr53Ter)	CLN8 (Y53*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2166847	NM_018941.4(CLN8):c.745T>C (p.Trp249Arg)	CLN8 (W249R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2165450	NM_018941.4(CLN8):c.630C>G (p.His210Gln)	CLN8 (H210Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2161147	NM_018941.4(CLN8):c.782T>C (p.Val261Ala)	CLN8 (V261A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 2157339	NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)	CLN8 (R24L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2156146	NM_018941.4(CLN8):c.835C>T (p.Gln279Ter)	CLN8 (Q279*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2155170	NM_018941.4(CLN8):c.578A>G (p.Asn193Ser)	CLN8 (N193S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2153567	NM_018941.4(CLN8):c.631A>T (p.Met211Leu)	CLN8 (M211L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2149021	NM_018941.4(CLN8):c.694A>C (p.Thr232Pro)	CLN8 (T232P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2146768	NM_018941.4(CLN8):c.457C>G (p.Leu153Val)	CLN8 (L153V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2140931	NM_018941.4(CLN8):c.160C>A (p.Arg54Ser)	CLN8 (R54S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2139637	NM_018941.4(CLN8):c.385C>G (p.Arg129Gly)	CLN8 (R129G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2139244	NM_018941.4(CLN8):c.459C>T (p.Leu153=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2136636	NM_018941.4(CLN8):c.509C>G (p.Thr170Arg)	CLN8 (T170R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2133464	NM_018941.4(CLN8):c.576C>G (p.Leu192=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2133039	NM_018941.4(CLN8):c.714G>A (p.Leu238=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign

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