ClinVar for MedGen (Select 10326) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366554	NM_003793.4(CTSF):c.593_594del (p.Thr197_Tyr198insTer)	CTSF	Microsatellite (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3366459	NM_001371596.2(MFSD8):c.847T>G (p.Phe283Val)	MFSD8 (F133V +8 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 3248232	NC_000020.10:g.(?_61978090)_(62562921_?)dup	ABHD16B, ARFRP1 +18 more	Duplication	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 3248231	NC_000020.10:g.(?_62559699)_(62562395_?)del	DNAJC5	Deletion	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 3248230	NC_000020.10:g.(?_61978090)_(62562921_?)del	ABHD16B, ARFRP1 +18 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 3245412	NC_000008.10:g.(?_1728396)_(1728733_?)del	CLN8	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3245411	NC_000008.10:g.(?_1719221)_(1719783_?)del	CLN8	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
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 3243742	NC_000015.9:g.(?_68503591)_(68506736_?)del	CLN6	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 3243741	NC_000015.9:g.(?_68510854)_(68511008_?)del	CLN6	Deletion	Neuronal ceroid lipofuscinosis	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 3233661	NM_017882.3(CLN6):c.829_836delinsCCT (p.Val277fs)	CLN6 (V277fs +1 more)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis	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 3021033	NM_001909.5(CTSD):c.68+11_68+12del	CTSD	Deletion (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3020760	NM_001042432.2(CLN3):c.790+19C>G	CLN3	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
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 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 3019320	NM_001909.5(CTSD):c.120G>A (p.Gly40=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	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 3018407	NM_017882.3(CLN6):c.542+15del	CLN6	Deletion (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3018168	NM_001909.5(CTSD):c.705-15C>T	CTSD	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 3017497	NM_006493.4(CLN5):c.174-9_174-6del	CLN5	Deletion (intron 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 3016958	NM_017882.3(CLN6):c.486+19C>G	CLN6	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 3014674	NM_001909.5(CTSD):c.229-8C>T	CTSD	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 3010857	NM_017882.3(CLN6):c.225A>C (p.Pro75=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3010652	NM_017882.3(CLN6):c.73C>T (p.Leu25=)	CLN6	Single nucleotide variant (synonymous variant +1 more)	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 3010152	NM_001909.5(CTSD):c.672G>A (p.Val224=)	CTSD	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 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 3007587	NM_017882.3(CLN6):c.666-12T>C	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3006679	NM_025219.3(DNAJC5):c.107G>A (p.Arg36Gln)	DNAJC5 (R36Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
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 3006011	NM_001909.5(CTSD):c.162G>A (p.Lys54=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript 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 3001074	NM_006493.4(CLN5):c.339+17G>A	CLN5	Single nucleotide variant (intron 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 2998916	NM_006493.4(CLN5):c.87C>T (p.Ala29=)	CLN5, LOC130009913	Single nucleotide variant (synonymous 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 2998185	NM_017882.3(CLN6):c.465G>A (p.Lys155=)	CLN6	Single nucleotide variant (synonymous variant)	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 2997663	NM_017882.3(CLN6):c.542+14C>T	CLN6	Single nucleotide variant (intron 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 2995516	NM_001909.5(CTSD):c.117T>C (p.Val39=)	CTSD, PRADX	Single nucleotide variant (non-coding transcript variant +1 more)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2994636	NM_001909.5(CTSD):c.1071+16G>A	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2994552	NM_001909.5(CTSD):c.1029A>G (p.Gly343=)	CTSD	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 2990994	NM_001042432.2(CLN3):c.510C>T (p.Leu170=)	CLN3	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
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 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 2985561	NM_001909.5(CTSD):c.457C>T (p.Gln153Ter)	CTSD (Q153*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2985252	NM_017882.3(CLN6):c.297+17C>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2984687	NM_017882.3(CLN6):c.642G>A (p.Val214=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2984239	NM_025219.3(DNAJC5):c.479A>G (p.Gln160Arg)	DNAJC5 (Q160R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2983304	NM_001909.5(CTSD):c.472-20G>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2980390	NM_017882.3(CLN6):c.685C>G (p.Gln229Glu)	CLN6 (Q229E +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
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 2979732	NM_017882.3(CLN6):c.613T>C (p.Leu205=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2978692	NM_017882.3(CLN6):c.542+12G>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2977387	NM_017882.3(CLN6):c.822G>C (p.Ala274=)	CLN6	Single nucleotide variant (synonymous 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 2973666	NM_006493.4(CLN5):c.340-1G>C	CLN5	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2973296	NM_017882.3(CLN6):c.665+18T>C	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
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 2971304	NM_025219.3(DNAJC5):c.587G>A (p.Gly196Glu)	DNAJC5 (G196E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2969189	NM_001042432.2(CLN3):c.222+17C>T	CLN3	Single nucleotide variant (intron 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 2967772	NM_017882.3(CLN6):c.504G>A (p.Leu168=)	CLN6	Single nucleotide variant (synonymous 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 2966475	NM_017882.3(CLN6):c.298-13C>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2965738	NM_001909.5(CTSD):c.1072-11G>A	CTSD	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 2961527	NM_025219.3(DNAJC5):c.494-16T>A	DNAJC5	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2961290	NM_017882.3(CLN6):c.675C>T (p.Val225=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2958711	NM_017882.3(CLN6):c.199-14C>A	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2958058	NM_025219.3(DNAJC5):c.186C>T (p.Asn62=)	DNAJC5	Single nucleotide variant (synonymous 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

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