ClinVar for Gene (Select 1203) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381783	NM_006493.4(CLN5):c.288del (p.Leu97fs)	CLN5 (L97fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3380156	NM_006493.4(CLN5):c.161C>T (p.Pro54Leu)	CLN5, LOC130009913 (P103L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377732	NM_006493.4(CLN5):c.826T>C (p.Phe276Leu)	CLN5 (F276L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GUncertain significance
Select item 3362324	NM_006493.4(CLN5):c.429del (p.Cys144fs)	CLN5 (C144fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3267814	NM_006493.4(CLN5):c.731A>C (p.Glu244Ala)	CLN5 (E293A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3267812	NM_006493.4(CLN5):c.965A>G (p.Tyr322Cys)	CLN5 (Y371C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3244119	NC_000013.10:g.(?_77574632)_(77577161_?)del	CLN5	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3244118	NC_000013.10:g.(?_77574631)_(77577159_?)del	CLN5	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3244117	NC_000013.10:g.(?_77574573)_(77575104_?)del	CLN5	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3242448	NM_006493.4(CLN5):c.339+2T>A	CLN5	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 5	GPathogenic
Select item 3241179	NM_006493.4(CLN5):c.655G>T (p.Glu219Ter)	CLN5 (E219* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3241178	NM_006493.4(CLN5):c.609del (p.Asn203fs)	CLN5 (N203fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3241177	NM_006493.4(CLN5):c.968T>A (p.Leu323Ter)	CLN5 (L323* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3067848	NM_006493.4(CLN5):c.997C>T (p.Pro333Ser)	CLN5 (P333S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3019888	NM_006493.4(CLN5):c.173+16C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3017497	NM_006493.4(CLN5):c.174-9_174-6del	CLN5	Deletion (intron 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 3008980	NM_006493.4(CLN5):c.351T>C (p.His117=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3001074	NM_006493.4(CLN5):c.339+17G>A	CLN5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2998916	NM_006493.4(CLN5):c.87C>T (p.Ala29=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2996263	NM_006493.4(CLN5):c.312T>C (p.Phe104=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2993252	NM_006493.4(CLN5):c.213A>G (p.Gln71=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2979845	NM_006493.4(CLN5):c.492C>T (p.Ala164=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2973666	NM_006493.4(CLN5):c.340-1G>C	CLN5	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2972289	NM_006493.4(CLN5):c.588A>G (p.Ala196=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2919925	NM_006493.4(CLN5):c.174-19G>A	CLN5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2914469	NM_006493.4(CLN5):c.174-8_174-6del	CLN5	Deletion (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2913847	NM_006493.4(CLN5):c.739G>A (p.Ala247Thr)	CLN5 (A247T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2908836	NM_006493.4(CLN5):c.135G>A (p.Ser45=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2906623	NM_006493.4(CLN5):c.339+15T>C	CLN5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2900239	NM_006493.4(CLN5):c.240C>T (p.Gly80=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2899190	NM_006493.4(CLN5):c.566-14T>C	CLN5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2894146	NM_006493.4(CLN5):c.915G>T (p.Leu305=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2892899	NM_006493.4(CLN5):c.359T>C (p.Ile120Thr)	CLN5 (I169T +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2890654	NM_006493.4(CLN5):c.849T>C (p.Thr283=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2888960	NM_006493.4(CLN5):c.639T>C (p.Asn213=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2866615	NM_006493.4(CLN5):c.441_442dup (p.His148fs)	CLN5 (H148fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 2860933	NM_006493.4(CLN5):c.576C>T (p.Phe192=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2860237	NC_000013.11:g.76991975G>T	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2860215	NM_006493.4(CLN5):c.669G>A (p.Glu223=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2858256	NM_006493.4(CLN5):c.375A>G (p.Thr125=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2849207	NC_000013.11:g.76992005A>C	CLN5 (Q18H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2848750	NM_006493.4(CLN5):c.51G>A (p.Ala17=)	CLN5, LOC130009913	Single nucleotide variant (synonymous 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 2842484	NC_000013.11:g.76992080A>G	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2840740	NM_006493.4(CLN5):c.529G>T (p.Glu177Ter)	CLN5 (E177* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2836997	NM_006493.4(CLN5):c.289T>C (p.Leu97=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2836151	NM_006493.4(CLN5):c.173+12G>A	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2832959	NM_006493.4(CLN5):c.173+15G>C	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2828380	NM_006493.4(CLN5):c.450A>G (p.Arg150=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2825254	NM_006493.4(CLN5):c.743_744dup (p.Phe249fs)	CLN5 (F249fs)	Microsatellite (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2823779	NM_006493.4(CLN5):c.882dup (p.Phe295fs)	CLN5 (F295fs)	Duplication (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2822345	NM_006493.4(CLN5):c.147C>T (p.Ser49=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2810020	NM_006493.4(CLN5):c.94C>T (p.Leu32=)	LOC130009913, CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2807335	NM_006493.4(CLN5):c.975T>C (p.Tyr325=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2804843	NM_006493.4(CLN5):c.174-5A>G	CLN5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2791937	NM_006493.4(CLN5):c.192A>G (p.Pro64=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2790938	NM_006493.4(CLN5):c.393C>T (p.Tyr131=)	CLN5	Single nucleotide variant (synonymous 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 2790268	NC_000013.11:g.76992053G>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2788862	NM_006493.4(CLN5):c.105C>G (p.Leu35=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2786606	NC_000013.11:g.76992068G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2786254	NM_006493.4(CLN5):c.636G>A (p.Trp212Ter)	CLN5 (W212* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2785584	NM_006493.4(CLN5):c.173+11C>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2780664	NM_006493.4(CLN5):c.606_618del (p.Asp202fs)	CLN5 (D202fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2779574	NM_006493.4(CLN5):c.173+13G>T	CLN5, LOC130009913	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2766300	NC_000013.11:g.76992029G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2766299	NC_000013.11:g.76992002G>T	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2763675	NM_006493.4(CLN5):c.339+19C>A	CLN5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2758737	NM_006493.4(CLN5):c.69C>A (p.Arg23=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2758302	NM_006493.4(CLN5):c.134C>T (p.Ser45Leu)	CLN5, LOC130009913 (S45L +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2757014	NC_000013.11:g.76991990T>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2755235	NM_006493.4(CLN5):c.69C>T (p.Arg23=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2744729	NM_006493.4(CLN5):c.954C>T (p.His318=)	CLN5	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2743639	NM_006493.4(CLN5):c.109del (p.Val37fs)	CLN5, LOC130009913 (V37fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2743254	NM_006493.4(CLN5):c.768T>G (p.Tyr256Ter)	CLN5 (Y305* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2741919	NM_006493.4(CLN5):c.54C>T (p.Gly18=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2735158	NM_006493.4(CLN5):c.441C>G (p.Pro147=)	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2710995	NM_006493.4(CLN5):c.216del (p.Lys73fs)	CLN5 (K73fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2697807	NM_006493.4(CLN5):c.30C>G (p.Gly10=)	CLN5, LOC130009913	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2694563	NM_006493.4(CLN5):c.989G>A (p.Trp330Ter)	CLN5 (W330* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2693185	NC_000013.11:g.76992071A>G	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2680839	NM_006493.4(CLN5):c.306G>A (p.Trp102Ter)	CLN5 (W102* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680838	NM_006493.4(CLN5):c.173+1G>A	CLN5, LOC130009913	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 2680837	NM_006493.4(CLN5):c.969_972del (p.Leu323fs)	CLN5 (L323fs)	Deletion (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680836	NM_006493.4(CLN5):c.431_432del (p.Cys144fs)	CLN5 (C144fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 2680835	NM_006493.4(CLN5):c.114_124dup (p.Ser42fs)	CLN5, LOC130009913 (S42fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680834	NM_006493.4(CLN5):c.34G>T (p.Glu12Ter)	CLN5, LOC130009913 (E12* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680833	NM_006493.4(CLN5):c.400G>T (p.Glu134Ter)	CLN5 (E134* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680831	NM_006493.4(CLN5):c.474del (p.Trp158fs)	CLN5 (W158fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680830	NM_006493.4(CLN5):c.342_346dup (p.Met116fs)	CLN5 (M116fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680829	NM_006493.4(CLN5):c.627T>A (p.Tyr209Ter)	CLN5 (Y209* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2680828	NM_006493.4(CLN5):c.717dup (p.Asn240Ter)	CLN5 (N240*)	Duplication (3 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 5	GLikely pathogenic
Select item 2664346	GRCh37/hg19 13q22.2-22.3(chr13:76441389-78303365)x3	ACOD1, CLN5 +7 more	Copy number gain	See cases	GUncertain significance

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