ClinVar for MedGen (Select 340540) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022659	NM_000310.4(PPT1):c.799-12T>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 3015048	NM_000310.4(PPT1):c.330T>A (p.Asn110Lys)	PPT1 (N110K)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 3010888	NM_000310.4(PPT1):c.362+9C>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 3001364	NM_000310.4(PPT1):c.799-11T>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2978498	NM_000310.4(PPT1):c.120G>A (p.Gly40=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2972889	NM_000310.4(PPT1):c.536+20A>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2971544	NM_000310.4(PPT1):c.124+14A>G	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2967405	NM_000310.4(PPT1):c.799-9C>T	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2958334	NM_000310.4(PPT1):c.433+9G>A	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2957565	NM_000310.4(PPT1):c.125-14G>A	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2954883	NM_000310.4(PPT1):c.363-18C>T	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2919153	NM_000310.4(PPT1):c.798+12G>A	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2918037	NM_000310.4(PPT1):c.607G>A (p.Ala203Thr)	PPT1 (A100T +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 2917302	NM_000310.4(PPT1):c.124+9G>C	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2912647	NM_000310.4(PPT1):c.125-19A>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2912011	NM_000310.4(PPT1):c.125-18T>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2904694	NM_000310.4(PPT1):c.124+15A>T	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2899068	NM_000310.4(PPT1):c.30_42dup (p.Leu15fs)	PPT1 (L15fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2897708	NM_000310.4(PPT1):c.491G>A (p.Arg164Gln)	PPT1 (R164Q +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 2893152	NM_000310.4(PPT1):c.727-18C>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2892354	NM_000310.4(PPT1):c.125-6G>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2888690	NM_000310.4(PPT1):c.741C>T (p.Tyr247=)	PPT1	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2877701	NM_000310.4(PPT1):c.216T>C (p.Ile72=)	PPT1	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2875534	NM_000310.4(PPT1):c.513G>T (p.Ala171=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2875407	NM_000310.4(PPT1):c.138C>T (p.Cys46=)	PPT1	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2874941	NM_000310.4(PPT1):c.536+8T>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2871091	NM_000310.4(PPT1):c.433+15_433+16del	PPT1	Deletion (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2871046	NM_000310.4(PPT1):c.537-13T>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2871015	NM_000310.4(PPT1):c.81G>A (p.Leu27=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2867242	NM_000310.4(PPT1):c.537-15T>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2865645	NM_000310.4(PPT1):c.838C>T (p.Leu280=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2854066	NM_000310.4(PPT1):c.60T>C (p.Ala20=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2852859	NM_000310.4(PPT1):c.447C>T (p.Leu149=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2850703	NM_000310.4(PPT1):c.235-1G>A	PPT1	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2846550	NM_000310.4(PPT1):c.501G>C (p.Leu167=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2846029	NM_000310.4(PPT1):c.628-2_642del	PPT1	Deletion (splice acceptor variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2845139	NM_000310.4(PPT1):c.432del (p.Gly145fs)	PPT1 (G145fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2845097	NM_000310.4(PPT1):c.456C>T (p.Cys152=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2842465	NM_000310.4(PPT1):c.45G>T (p.Leu15=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2839206	NM_000310.4(PPT1):c.628-19T>A	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2836752	NM_000310.4(PPT1):c.234+8G>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2829498	NM_000310.4(PPT1):c.879T>A (p.Ser293=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2824199	NM_000310.4(PPT1):c.36G>A (p.Val12=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2822373	NM_000310.4(PPT1):c.480_481del (p.Cys160_Asp161delinsTer)	PPT1	Microsatellite (nonsense)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2821163	NM_000310.4(PPT1):c.534A>G (p.Glu178=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2815167	NM_000310.4(PPT1):c.637G>T (p.Glu213Ter)	PPT1 (E213* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2813305	NM_000310.4(PPT1):c.290del (p.Gln97fs)	PPT1 (Q97fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2813147	NM_000310.4(PPT1):c.799-6C>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2811436	NM_000310.4(PPT1):c.183A>G (p.Lys61=)	PPT1	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2810875	NM_000310.4(PPT1):c.607del (p.Ala203fs)	PPT1 (A100fs +1 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2807176	NM_000310.4(PPT1):c.582G>A (p.Val194=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2806767	NM_000310.4(PPT1):c.678G>C (p.Val226=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2806007	NM_000310.4(PPT1):c.219G>C (p.Gly73=)	PPT1	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2802618	NM_000310.4(PPT1):c.604T>C (p.Leu202=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2802002	NM_000310.4(PPT1):c.727-17C>T	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2800458	NM_000310.4(PPT1):c.628-3dup	PPT1	Duplication (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2795266	NM_000310.4(PPT1):c.235-5T>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2793443	NM_000310.4(PPT1):c.536+8T>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2784262	NM_000310.4(PPT1):c.326A>C (p.Tyr109Ser)	PPT1 (Y109S)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2781897	NM_000310.4(PPT1):c.124+20A>G	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2779960	NM_000310.4(PPT1):c.316C>T (p.Gln106Ter)	PPT1 (Q106*)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2765048	NM_000310.4(PPT1):c.537-17C>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2764183	NM_000310.4(PPT1):c.414G>T (p.Ser138=)	PPT1	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2764049	NM_000310.4(PPT1):c.628-2A>T	PPT1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2758070	NM_000310.4(PPT1):c.628-5T>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2752503	NM_000310.4(PPT1):c.169del (p.Met57fs)	PPT1 (M57fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2752233	NM_000310.4(PPT1):c.537-12T>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2751633	NM_000310.4(PPT1):c.21G>A (p.Leu7=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2750466	NM_000310.4(PPT1):c.579T>C (p.Asp193=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2748739	NM_000310.4(PPT1):c.235-7T>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2748451	NM_000310.4(PPT1):c.628-11C>A	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2747345	NM_000310.4(PPT1):c.433+14T>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2744463	NM_000310.4(PPT1):c.820del (p.Met274fs)	PPT1 (M250fs +2 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2743927	NM_000310.4(PPT1):c.627+15C>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2743069	NM_000310.4(PPT1):c.228G>C (p.Leu76=)	PPT1	Single nucleotide variant (synonymous variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2741749	NM_000310.4(PPT1):c.536+18A>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2739369	NM_000310.4(PPT1):c.810G>T (p.Gly270=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2735811	NM_000310.4(PPT1):c.434-10A>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2735090	NM_000310.4(PPT1):c.125-2A>T	PPT1	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2732619	NM_000310.4(PPT1):c.124+19T>G	LOC129930245, PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2716077	NM_000310.4(PPT1):c.362+18dup	PPT1	Duplication (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2713617	NM_000310.4(PPT1):c.723G>T (p.Ser241=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2711895	NM_000310.4(PPT1):c.362+11T>C	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2708930	NM_000310.4(PPT1):c.627+12A>T	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2702053	NM_000310.4(PPT1):c.319C>T (p.Gln107Ter)	PPT1 (Q107*)	Single nucleotide variant (nonsense +1 more)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2700640	NM_000310.4(PPT1):c.537-8T>G	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2699925	NM_000310.4(PPT1):c.125-9G>A	PPT1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2694774	NM_000310.4(PPT1):c.276A>G (p.Val92=)	PPT1	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2678045	NM_000310.4(PPT1):c.367del (p.Ala123fs)	PPT1 (A123fs)	Deletion (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2678044	NM_000310.4(PPT1):c.50G>A (p.Trp17Ter)	PPT1 (W17*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2678043	NM_000310.4(PPT1):c.885del (p.Glu295fs)	PPT1 (E192fs +2 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2678042	NM_000310.4(PPT1):c.561_562del (p.His187fs)	PPT1 (H187fs +1 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2678041	NM_000310.4(PPT1):c.585T>G (p.Tyr195Ter)	PPT1 (Y195* +1 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2678040	NM_000310.4(PPT1):c.286_289dup (p.Gln97fs)	PPT1 (Q97fs)	Duplication (frameshift variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2678039	NM_000310.4(PPT1):c.234+2T>C	PPT1	Single nucleotide variant (intron variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2665094	NM_000310.4(PPT1):c.335T>C (p.Met112Thr)	PPT1 (M112T)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2422854	NC_000001.10:g.(?_40561110)_(40562920_?)del	PPT1	Deletion	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 2422853	NC_000001.10:g.(?_40539733)_(40546179_?)dup	PPT1	Duplication	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 2422852	NC_000001.10:g.(?_40539733)_(40539875_?)dup	PPT1	Duplication	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 2422851	NC_000001.10:g.(?_40555072)_(40558194_?)del	PPT1	Deletion	Neuronal ceroid lipofuscinosis 1	GPathogenic

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