ClinVar for MedGen (Select 762260) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244026	NC_000014.8:g.(?_102894567)_(102898485_?)del	TECPR2	Deletion	Hereditary spastic paraplegia 49	GPathogenic
Select item 3244025	NC_000014.8:g.(?_102843049)_(102931651_?)del	TECPR2	Deletion	Hereditary spastic paraplegia 49	GPathogenic
Select item 3244024	NC_000014.8:g.(?_102899405)_(102901470_?)del	TECPR2	Deletion	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 3244023	NC_000014.8:g.(?_102843059)_(102964594_?)del	TECPR2	Deletion	Hereditary spastic paraplegia 49	GPathogenic
Select item 3235877	NM_014844.5(TECPR2):c.3508_3532dup (p.Gln1178fs)	TECPR2 (Q1178fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 49	GPathogenic
Select item 3067893	NM_014844.5(TECPR2):c.1923_1924del (p.Glu641fs)	TECPR2 (E641fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 3021693	NM_014844.5(TECPR2):c.952-19_952-18insG	TECPR2	Insertion (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3016596	NM_014844.5(TECPR2):c.171C>A (p.Leu57=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3016555	NM_014844.5(TECPR2):c.2727C>T (p.Thr909=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3015380	NM_014844.5(TECPR2):c.795C>T (p.Val265=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3014835	NM_014844.5(TECPR2):c.2753-11C>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3012798	NM_014844.5(TECPR2):c.3076-17T>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3012542	NM_014844.5(TECPR2):c.1191del (p.Met398fs)	TECPR2 (M398fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 49	GPathogenic
Select item 3009508	NM_014844.5(TECPR2):c.1275T>G (p.Pro425=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3008456	NM_014844.5(TECPR2):c.4161G>C (p.Ser1387=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3008343	NM_014844.5(TECPR2):c.3180G>A (p.Lys1060=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3006402	NM_014844.5(TECPR2):c.1084+15T>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3004584	NM_014844.5(TECPR2):c.291C>T (p.Ala97=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3001602	NM_014844.5(TECPR2):c.1085-9C>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3000726	NM_014844.5(TECPR2):c.3317-13T>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3000370	NM_014844.5(TECPR2):c.1200C>T (p.Ser400=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 3000239	NM_014844.5(TECPR2):c.1431G>A (p.Arg477=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2999067	NM_014844.5(TECPR2):c.1084+20T>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2999001	NM_014844.5(TECPR2):c.4082-20_4082-17del	TECPR2	Deletion (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2997695	NM_014844.5(TECPR2):c.480+7T>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2996827	NM_014844.5(TECPR2):c.2753-13A>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2996636	NM_014844.5(TECPR2):c.1860C>T (p.Ser620=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2994799	NM_014844.5(TECPR2):c.3076-13C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2992739	NM_014844.5(TECPR2):c.2933+12C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2991347	NM_014844.5(TECPR2):c.480+14C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2991181	NM_014844.5(TECPR2):c.2934-12C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2991003	NM_014844.5(TECPR2):c.3932-17A>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2990188	NM_014844.5(TECPR2):c.4082-6C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2990033	NM_014844.5(TECPR2):c.3075+19G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2988571	NM_014844.5(TECPR2):c.2727C>A (p.Thr909=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2986021	NM_014844.5(TECPR2):c.220-9T>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2982453	NM_014844.5(TECPR2):c.2934-14C>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2979657	NM_014844.5(TECPR2):c.3640+8C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2978999	NM_014844.5(TECPR2):c.3641-12_3641-9del	TECPR2	Deletion (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2978885	NM_014844.5(TECPR2):c.2913G>A (p.Gln971=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2977167	NM_014844.5(TECPR2):c.2487A>G (p.Lys829=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2976927	NM_014844.5(TECPR2):c.147G>T (p.Ala49=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2976084	NM_014844.5(TECPR2):c.4101G>A (p.Leu1367=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2974420	NM_014844.5(TECPR2):c.4081+18G>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2973257	NM_014844.5(TECPR2):c.2476C>T (p.Leu826=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2971862	NM_014844.5(TECPR2):c.1137A>G (p.Gln379=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2970148	NM_014844.5(TECPR2):c.3318C>T (p.Gly1106=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2968986	NM_014844.5(TECPR2):c.2934-12_2934-10del	TECPR2	Microsatellite (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2968525	NM_014844.5(TECPR2):c.3407-13C>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2966937	NM_014844.5(TECPR2):c.2868C>G (p.Leu956=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2966902	NM_014844.5(TECPR2):c.951+12_951+15del	TECPR2	Deletion (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2966160	NM_014844.5(TECPR2):c.1449C>T (p.Ser483=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2964701	NM_014844.5(TECPR2):c.3863G>A (p.Trp1288Ter)	TECPR2 (W1288*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 49	GPathogenic
Select item 2963622	NM_014844.5(TECPR2):c.3789+19G>A	TECPR2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2963615	NM_014844.5(TECPR2):c.952-17_952-6del	TECPR2	Deletion (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2961788	NM_014844.5(TECPR2):c.2394+12C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2960239	NM_014844.5(TECPR2):c.1417+8C>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2959479	NM_014844.5(TECPR2):c.4081+17A>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2958768	NM_014844.5(TECPR2):c.351T>A (p.Leu117=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2957865	NM_014844.5(TECPR2):c.2578+1G>A	TECPR2	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 49	GLikely pathogenic
Select item 2955565	NM_014844.5(TECPR2):c.3407-17A>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2920470	NM_014844.5(TECPR2):c.1362G>A (p.Gln454=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2919991	NM_014844.5(TECPR2):c.387C>T (p.Ser129=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2919449	NM_014844.5(TECPR2):c.220-15T>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2919433	NM_014844.5(TECPR2):c.3640+14G>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2918919	NM_014844.5(TECPR2):c.3186A>G (p.Ala1062=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2918532	NM_014844.5(TECPR2):c.4113C>T (p.Gly1371=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2917820	NM_014844.5(TECPR2):c.480+16G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2917734	NM_014844.5(TECPR2):c.2578+13G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2917206	NM_014844.5(TECPR2):c.2753-20T>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2917184	NM_014844.5(TECPR2):c.3407-12C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2917067	NM_014844.5(TECPR2):c.952-4A>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2916827	NM_014844.5(TECPR2):c.3877C>A (p.Arg1293=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2915958	NM_014844.5(TECPR2):c.2853A>T (p.Thr951=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2915562	NM_014844.5(TECPR2):c.3316+17A>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2915550	NM_014844.5(TECPR2):c.2349G>A (p.Leu783=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2915544	NM_014844.5(TECPR2):c.1084+11A>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2914595	NM_014844.5(TECPR2):c.3738C>G (p.Leu1246=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2914548	NM_014844.5(TECPR2):c.1418-13T>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2914068	NM_014844.5(TECPR2):c.3690C>G (p.Ala1230=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2914062	NM_014844.5(TECPR2):c.183C>T (p.Cys61=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2913930	NM_014844.5(TECPR2):c.481-10dup	TECPR2	Duplication (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2912235	NM_014844.5(TECPR2):c.1085-14C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2912034	NM_014844.5(TECPR2):c.1653G>A (p.Glu551=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2911740	NM_014844.5(TECPR2):c.2752+11G>A	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2911307	NM_014844.5(TECPR2):c.952-15_952-14insG	TECPR2	Insertion (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2910625	NM_014844.5(TECPR2):c.952-13_952-6del	TECPR2	Deletion (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2909446	NM_014844.5(TECPR2):c.2124G>A (p.Gln708=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2908751	NM_014844.5(TECPR2):c.3150G>A (p.Val1050=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2908222	NM_014844.5(TECPR2):c.2688T>C (p.Phe896=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2907910	NM_014844.5(TECPR2):c.789G>A (p.Gly263=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2906616	NM_014844.5(TECPR2):c.3317-12T>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2906407	NM_014844.5(TECPR2):c.2265G>A (p.Glu755=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2905813	NM_014844.5(TECPR2):c.3407-10del	TECPR2	Deletion (intron variant)	Hereditary spastic paraplegia 49	GBenign
Select item 2905235	NM_014844.5(TECPR2):c.3076-18C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2904731	NM_014844.5(TECPR2):c.738T>C (p.Asp246=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2904260	NM_014844.5(TECPR2):c.2358G>A (p.Leu786=)	TECPR2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2903291	NM_014844.5(TECPR2):c.3932-16C>T	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2900850	NM_014844.5(TECPR2):c.3317-20T>C	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign
Select item 2900642	NM_014844.5(TECPR2):c.348+17T>G	TECPR2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 49	GLikely benign

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