ClinVar for Gene (Select 1200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337685	NM_000391.4(TPP1):c.1158C>G (p.Thr386=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3337684	NM_000391.4(TPP1):c.1551+5G>C	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3251468	NM_000391.4(TPP1):c.1146C>A (p.Ser382Arg)	TPP1 (S382R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242108	NM_000391.4(TPP1):c.164A>G (p.Gln55Arg)	TPP1 (Q55R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 3233743	NM_000391.4(TPP1):c.1445G>C (p.Gly482Ala)	TPP1 (G482A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026111	NM_000391.4(TPP1):c.565C>T (p.Gln189Ter)	TPP1 (Q189*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3018522	NM_000391.4(TPP1):c.933C>T (p.Leu311=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014082	NM_000391.4(TPP1):c.229+16G>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011062	NM_000391.4(TPP1):c.893A>C (p.His298Pro)	TPP1 (H298P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006678	NM_000391.4(TPP1):c.90-6C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005469	NM_000391.4(TPP1):c.216C>T (p.Ser72=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005416	NM_000391.4(TPP1):c.1551+11A>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002250	NM_000391.4(TPP1):c.380+12T>C	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000383	NM_000391.4(TPP1):c.688-17T>C	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999550	NM_000391.4(TPP1):c.381-16G>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994900	NM_000391.4(TPP1):c.1117C>T (p.Gln373Ter)	TPP1 (Q373*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2989897	NM_000391.4(TPP1):c.1086G>C (p.Gly362=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982462	NM_000391.4(TPP1):c.380+17G>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982251	NM_000391.4(TPP1):c.380+16del	TPP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2964925	NM_000391.4(TPP1):c.1146-17C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962376	NM_000391.4(TPP1):c.960G>A (p.Val320=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960705	NM_000391.4(TPP1):c.89+17C>T	LOC130005207, TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959223	NM_000391.4(TPP1):c.807C>A (p.Ala269=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957713	NM_000391.4(TPP1):c.1255C>G (p.Pro419Ala)	TPP1 (P419A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957459	NM_000391.4(TPP1):c.609T>C (p.Ser203=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956761	NM_000391.4(TPP1):c.90-19CTGACCC[3]	TPP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2919907	NM_000391.4(TPP1):c.17+17G>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919888	NM_000391.4(TPP1):c.1145+15C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918400	NM_000391.4(TPP1):c.24A>C (p.Leu8=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918250	NM_000391.4(TPP1):c.915G>A (p.Leu305=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917090	NM_000391.4(TPP1):c.1266+1G>A	TPP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2916648	NM_000391.4(TPP1):c.282G>C (p.Leu94=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916261	NM_000391.4(TPP1):c.900A>T (p.Gly300=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911404	NM_000391.4(TPP1):c.496del (p.His166fs)	TPP1 (H166fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2909607	NM_000391.4(TPP1):c.1146-19T>C	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909209	NM_000391.4(TPP1):c.90-12dup	TPP1	Duplication (intron variant)	not provided	GBenign
Select item 2907134	NM_000391.4(TPP1):c.1145+18C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905043	NM_000391.4(TPP1):c.1444G>A (p.Gly482Arg)	TPP1 (G482R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2903840	NM_000391.4(TPP1):c.1551+18G>C	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898939	NM_000391.4(TPP1):c.887-7A>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898938	NM_000391.4(TPP1):c.887-5_887-4del	TPP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2898352	NM_000391.4(TPP1):c.1076-14T>G	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897916	NM_000391.4(TPP1):c.1552-15C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882559	NM_000391.4(TPP1):c.509-8C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882218	NM_000391.4(TPP1):c.1551+14G>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881355	NM_000391.4(TPP1):c.201T>C (p.Ala67=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875979	NM_000391.4(TPP1):c.1443_1444delinsCT (p.Gly482Trp)	TPP1 (G482W)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 2872874	NM_000391.4(TPP1):c.441_443delinsGGACCTACGGAGGACCTACGGAGGACCA (p.Thr148fs)	TPP1 (T148fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2872360	NM_000391.4(TPP1):c.543C>T (p.Ser181=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866648	NM_000391.4(TPP1):c.688-13A>G	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866063	NM_000391.4(TPP1):c.1076-5C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861681	NM_000391.4(TPP1):c.18-18C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860947	NM_000391.4(TPP1):c.1552-13G>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860160	NM_000391.4(TPP1):c.1145+13G>C	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858128	NM_000391.4(TPP1):c.230-1G>A	TPP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2857155	NM_000391.4(TPP1):c.1503C>G (p.Gly501=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856927	NM_000391.4(TPP1):c.1551+18G>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856602	NM_000391.4(TPP1):c.1076-4T>C	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856016	NM_000391.4(TPP1):c.18-16C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854085	NM_000391.4(TPP1):c.747C>A (p.Gly249=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850456	NM_000391.4(TPP1):c.1416C>A (p.Ser472=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847660	NM_000391.4(TPP1):c.1425+13C>G	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847589	NM_000391.4(TPP1):c.687+2T>A	TPP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2847540	NM_000391.4(TPP1):c.1398G>T (p.Val466=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846021	NM_000391.4(TPP1):c.1401C>T (p.Pro467=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845205	NM_000391.4(TPP1):c.1347C>T (p.Tyr449=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841264	NM_000391.4(TPP1):c.600A>G (p.Val200=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839322	NM_000391.4(TPP1):c.1146-6C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838956	NM_000391.4(TPP1):c.18-8C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838151	NM_000391.4(TPP1):c.230-6C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837139	NM_000391.4(TPP1):c.1518G>A (p.Arg506=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835888	NM_000391.4(TPP1):c.1551+1del	TPP1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2835391	NM_000391.4(TPP1):c.886+15A>G	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835149	NM_000391.4(TPP1):c.1245G>A (p.Val415=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833899	NM_000391.4(TPP1):c.1076-11G>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833217	NM_000391.4(TPP1):c.246A>G (p.Leu82=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832509	NM_000391.4(TPP1):c.886+9A>G	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831024	NM_000391.4(TPP1):c.90-19C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828406	NM_000391.4(TPP1):c.1075+12_1075+16del	TPP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2827985	NM_000391.4(TPP1):c.1011C>T (p.Ile337=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827922	NM_000391.4(TPP1):c.1570G>T (p.Glu524Ter)	TPP1 (E524*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2827032	NM_000391.4(TPP1):c.1426-10A>C	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826974	NM_000391.4(TPP1):c.324C>G (p.Ala108=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825851	NM_000391.4(TPP1):c.419del (p.His140fs)	TPP1 (H140fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2824406	NM_000391.4(TPP1):c.1551+20G>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824334	NM_000391.4(TPP1):c.1266+13G>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823993	NM_000391.4(TPP1):c.99A>G (p.Pro33=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823964	NM_000391.4(TPP1):c.1145+19C>G	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823888	NM_000391.4(TPP1):c.112C>T (p.Leu38=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822382	NM_000391.4(TPP1):c.1075+8C>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819128	NM_000391.4(TPP1):c.1266+1G>T	TPP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2818911	NM_000391.4(TPP1):c.508+9T>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818719	NM_000391.4(TPP1):c.1425+17C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815423	NM_000391.4(TPP1):c.90-5T>C	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814414	NM_000391.4(TPP1):c.711C>T (p.Asp237=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814344	NM_000391.4(TPP1):c.547A>G (p.Arg183Gly)	TPP1 (R183G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812063	NM_000391.4(TPP1):c.358C>T (p.Leu120=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811696	NM_000391.4(TPP1):c.1557C>G (p.Thr519=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810695	NM_000391.4(TPP1):c.1638A>G (p.Thr546=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807270	NM_000391.4(TPP1):c.1482T>C (p.Leu494=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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