ClinVar for Gene (Select 1201) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243421	NC_000016.9:g.(?_28488837)_(29001333_?)del	APOBR, ATP2A1 +15 more	Deletion	Brody myopathy	GPathogenic
Select item 3243310	NC_000016.9:g.(?_28493406)_(28500727_?)dup	CLN3	Duplication	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 3243309	NC_000016.9:g.(?_28498757)_(28499082_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243307	NC_000016.9:g.(?_28495875)_(28499994_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243306	NC_000016.9:g.(?_28498757)_(28503080_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243305	NC_000016.9:g.(?_28488837)_(28494013_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243304	NC_000016.9:g.(?_28493406)_(28494013_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243303	NC_000016.9:g.(?_28488837)_(28503080_?)del	CLN3	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3241175	NM_001042432.2(CLN3):c.677+1G>A	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 3241174	NM_001042432.2(CLN3):c.936_937del (p.Leu313fs)	CLN3 (L213fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 3	GLikely pathogenic
Select item 3145922	NM_001042432.2(CLN3):c.508C>T (p.Leu170Phe)	CLN3 (L170F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063469	GRCh37/hg19 16p11.2(chr16:28485883-29347116)x1	APOBR, ATP2A1 +15 more	Copy number loss	not specified	GPathogenic
Select item 3063422	GRCh37/hg19 16p11.2(chr16:28371467-29379768)x1	APOBR, ATP2A1 +17 more	Copy number loss	not specified	GPathogenic
Select item 3063415	GRCh37/hg19 16p11.2(chr16:28486928-29438326)x1	APOBR, ATP2A1 +15 more	Copy number loss	not specified	GPathogenic
Select item 3020760	NM_001042432.2(CLN3):c.790+19C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3019728	NM_001042432.2(CLN3):c.1125C>T (p.Phe375=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3019350	NM_001042432.2(CLN3):c.1056+20C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3017992	NM_001042432.2(CLN3):c.1056+18C>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 3015484	NM_001042432.2(CLN3):c.1197+15G>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3014424	NM_001042432.2(CLN3):c.60C>T (p.Val20=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3014299	NM_001042432.2(CLN3):c.1057-14C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3008900	NM_001042432.2(CLN3):c.125+9C>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3008302	NM_001042432.2(CLN3):c.42C>A (p.Ser14=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3005039	NM_001042432.2(CLN3):c.791-15T>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3001479	NM_001042432.2(CLN3):c.295-18T>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2998854	NM_001042432.2(CLN3):c.533+12G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2998188	NM_001042432.2(CLN3):c.228C>T (p.Asp76=)	CLN3 (T3I)	Single nucleotide variant (synonymous variant +2 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2998002	NM_001042432.2(CLN3):c.534-17T>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2990994	NM_001042432.2(CLN3):c.510C>T (p.Leu170=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2990120	NM_001042432.2(CLN3):c.222+19C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2985891	NM_001042432.2(CLN3):c.906+18G>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2985671	NM_001042432.2(CLN3):c.837+17G>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2976824	NM_001042432.2(CLN3):c.677+10C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2969189	NM_001042432.2(CLN3):c.222+17C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2967453	NM_001042432.2(CLN3):c.460+20T>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2966522	NM_001042432.2(CLN3):c.126-16G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2966513	NM_001042432.2(CLN3):c.460+12G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2964893	NM_001042432.2(CLN3):c.791-20C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2956396	NM_001042432.2(CLN3):c.1057-14C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2920674	GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1	CLN3	Copy number loss	Neuronal ceroid lipofuscinosis 3	GPathogenic
Select item 2920124	NM_001042432.2(CLN3):c.222+13C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2919616	NM_001042432.2(CLN3):c.963-20C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2918923	NM_001042432.2(CLN3):c.46+12C>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2912735	NM_001042432.2(CLN3):c.838-20A>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2910918	NM_001042432.2(CLN3):c.223-18A>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2909781	NM_001042432.2(CLN3):c.564T>G (p.Thr188=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2906385	NM_001042432.2(CLN3):c.598_601dup (p.Gly201fs)	CLN3 (G177fs +4 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2904774	NM_001042432.2(CLN3):c.460+17G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2903091	NM_001042432.2(CLN3):c.46+14C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2893632	NM_001042432.2(CLN3):c.963-16C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2893247	NM_001042432.2(CLN3):c.838-17T>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2886893	NM_001042432.2(CLN3):c.791-16C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2886820	NM_001042432.2(CLN3):c.791-9C>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2886075	NM_001042432.2(CLN3):c.222+14T>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2885515	NM_001042432.2(CLN3):c.460+12G>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2881467	NM_001042432.2(CLN3):c.533+11G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2878358	NM_001042432.2(CLN3):c.906+17A>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2875820	NM_001042432.2(CLN3):c.678-14C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2873139	NM_001042432.2(CLN3):c.1056+16C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2866419	NM_001042432.2(CLN3):c.579G>A (p.Leu193=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2864928	NM_001042432.2(CLN3):c.1057-12C>T	CLN3	Single nucleotide variant (intron 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 2860821	NM_001042432.2(CLN3):c.560G>A (p.Gly187Glu)	CLN3 (G133E +4 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2858734	NM_001042432.2(CLN3):c.46+12C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2858009	NM_001042432.2(CLN3):c.375-5dup	CLN3	Duplication (intron variant)	Neuronal ceroid lipofuscinosis	GBenign
Select item 2858003	NM_001042432.2(CLN3):c.882C>G (p.Ala294=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2855731	NM_001042432.2(CLN3):c.962+2dup	CLN3	Duplication (splice donor variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2855396	NM_001042432.2(CLN3):c.677+11C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2855238	NM_001042432.2(CLN3):c.1050G>C (p.Leu350=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2855101	NM_001042432.2(CLN3):c.1110C>T (p.Ser370=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2853451	NM_001042432.2(CLN3):c.461-3dup	CLN3	Duplication (intron variant)	Neuronal ceroid lipofuscinosis	GBenign
Select item 2853419	NM_001042432.2(CLN3):c.126-11G>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2853186	NM_001042432.2(CLN3):c.1128G>T (p.Leu376=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2852399	NM_001042432.2(CLN3):c.963-8A>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2850686	NM_001042432.2(CLN3):c.461-2A>G	CLN3	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2844559	NM_001042432.2(CLN3):c.47-2A>T	CLN3	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2841434	NM_001042432.2(CLN3):c.677+10C>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2839829	NM_001042432.2(CLN3):c.306G>A (p.Leu102=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2834512	NM_001042432.2(CLN3):c.1071G>A (p.Val357=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2834463	NM_001042432.2(CLN3):c.57C>A (p.Thr19=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2834231	NM_001042432.2(CLN3):c.223-16G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2832905	NM_001042432.2(CLN3):c.321C>A (p.Pro107=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2831367	NM_001042432.2(CLN3):c.295-19C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2831130	NM_001042432.2(CLN3):c.528C>T (p.Tyr176=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2828446	NM_001042432.2(CLN3):c.791-13T>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2826379	NM_001042432.2(CLN3):c.837+1G>T	CLN3	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2825534	NM_001042432.2(CLN3):c.534-5C>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2825220	NM_001042432.2(CLN3):c.962+18A>G	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 2821999	NM_001042432.2(CLN3):c.677+18G>T	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2821360	NM_001042432.2(CLN3):c.162G>T (p.Val54=)	CLN3	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2819413	NM_001042432.2(CLN3):c.460+12G>C	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2817182	NM_001042432.2(CLN3):c.683del (p.Phe228fs)	CLN3 (F128fs +4 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2814064	NM_001042432.2(CLN3):c.774C>T (p.Ala258=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2808859	NM_001042432.2(CLN3):c.1056+12C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
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 2805482	NM_001042432.2(CLN3):c.1107A>G (p.Pro369=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2799487	NM_001042432.2(CLN3):c.533+19del	CLN3	Deletion (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2799007	NM_001042432.2(CLN3):c.460+7G>A	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign

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