ClinVar for Gene (Select 9895) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342632	NM_014844.5(TECPR2):c.4104G>A (p.Trp1368Ter)	TECPR2 (W1368*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3342077	NM_014844.5(TECPR2):c.2931C>T (p.Val977=)	TECPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3338229	NM_014844.5(TECPR2):c.3905_3918del (p.Val1302fs)	TECPR2 (V1302fs)	Deletion (frameshift variant)	Autism	GPathogenic
Select item 3325206	NM_014844.5(TECPR2):c.817C>T (p.Arg273Cys)	TECPR2 (R273C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325205	NM_014844.5(TECPR2):c.1938C>G (p.Asn646Lys)	TECPR2 (N646K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325204	NM_014844.5(TECPR2):c.1592A>G (p.Asn531Ser)	TECPR2 (N531S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3325203	NM_014844.5(TECPR2):c.1273C>G (p.Pro425Ala)	TECPR2 (P425A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325202	NM_014844.5(TECPR2):c.3701G>T (p.Arg1234Met)	TECPR2 (R1234M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325200	NM_014844.5(TECPR2):c.94C>T (p.Arg32Cys)	TECPR2 (R32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325199	NM_014844.5(TECPR2):c.4148C>T (p.Thr1383Met)	TECPR2 (T1383M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257691	NM_014844.5(TECPR2):c.2490C>T (p.Gly830=)	LOC130056519, TECPR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250775	NM_014844.5(TECPR2):c.1687G>A (p.Glu563Lys)	TECPR2 (E563K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244097	NC_000014.8:g.(?_102843059)_(103397017_?)dup	AMN, ANKRD9 +3 more	Duplication	not provided	GUncertain significance
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
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 3244018	NC_000014.8:g.(?_102431029)_(103397017_?)dup	AMN, ANKRD9 +9 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	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 3175640	NM_014844.5(TECPR2):c.3760G>A (p.Ala1254Thr)	TECPR2 (A1254T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175639	NM_014844.5(TECPR2):c.3434G>A (p.Ser1145Asn)	TECPR2 (S1145N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175637	NM_014844.5(TECPR2):c.3403G>A (p.Glu1135Lys)	TECPR2 (E1135K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175636	NM_014844.5(TECPR2):c.3377T>C (p.Val1126Ala)	TECPR2 (V1126A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175634	NM_014844.5(TECPR2):c.2693C>T (p.Ala898Val)	TECPR2 (A898V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175632	NM_014844.5(TECPR2):c.2465A>T (p.Tyr822Phe)	TECPR2 (Y822F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175631	NM_014844.5(TECPR2):c.2354G>A (p.Arg785Gln)	TECPR2 (R785Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3175630	NM_014844.5(TECPR2):c.2120G>A (p.Gly707Asp)	TECPR2 (G707D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175627	NM_014844.5(TECPR2):c.1573G>T (p.Asp525Tyr)	TECPR2 (D525Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3175625	NM_014844.5(TECPR2):c.1226G>A (p.Arg409Lys)	TECPR2 (R409K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 3057668	NM_014844.5(TECPR2):c.81C>T (p.Ile27=)	TECPR2	Single nucleotide variant (synonymous variant)	TECPR2-related disorder	GLikely benign
Select item 3047641	NM_014844.5(TECPR2):c.952-3C>A	TECPR2	Single nucleotide variant (intron variant)	TECPR2-related disorder	GLikely benign
Select item 3025880	NM_014844.5(TECPR2):c.2092T>G (p.Trp698Gly)	TECPR2 (W698G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024584	GRCh37/hg19 14q32.31(chr14:102749815-103192843)x3	ANKRD9, CINP +4 more	Copy number gain	not provided	GUncertain significance
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

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