AGTPBP1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 113

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	LOC126860637, LOC126860638 +1188 more	Copy number gain	See cases	GPathogenic
Select item 155468	GRCh38/hg38 9q21.33(chr9:84797249-85664850)x3	AGTPBP1, LOC126860661 +7 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 150690	GRCh38/hg38 9q21.33(chr9:84837563-85740812)x3	AGTPBP1, LOC126860661 +7 more	Copy number gain	See cases	GUncertain significance
Select item 148095	GRCh38/hg38 9q21.33(chr9:84837661-85740938)x3	AGTPBP1, LOC126860661 +7 more	Copy number gain	See cases	GUncertain significance
Select item 150247	GRCh38/hg38 9q21.33(chr9:84861055-86784049)x1	AGTPBP1, C9orf153 +31 more	Copy number loss	See cases	GUncertain significance
Select item 155080	GRCh38/hg38 9q21.33(chr9:85169032-85669572)x3	AGTPBP1, LOC126860663 +3 more	Copy number gain	See cases	GUncertain significance
Select item 2330249	NM_001330701.2(AGTPBP1):c.3670T>G (p.Tyr1224Asp)	AGTPBP1 (Y1236D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480888	NM_001330701.2(AGTPBP1):c.3640G>A (p.Val1214Ile)	AGTPBP1 (V1174I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659286	NM_001330701.2(AGTPBP1):c.3639A>C (p.Glu1213Asp)	AGTPBP1 (E1173D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1308441	NM_001330701.2(AGTPBP1):c.3527A>G (p.Glu1176Gly)	AGTPBP1 (E1136G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3052612	NM_001330701.2(AGTPBP1):c.3385A>G (p.Lys1129Glu)	AGTPBP1 (K1089E +3 more)	Single nucleotide variant (missense variant)	AGTPBP1-related condition	GLikely benign
Select item 2295541	NM_001330701.2(AGTPBP1):c.3375G>C (p.Glu1125Asp)	AGTPBP1 (E1125D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407841	NM_001330701.2(AGTPBP1):c.3337T>G (p.Tyr1113Asp)	AGTPBP1 (Y1125D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325202	NM_001330701.2(AGTPBP1):c.3256C>T (p.Arg1086Cys)	AGTPBP1 (R1046C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051122	NM_001330701.2(AGTPBP1):c.3252A>G (p.Thr1084=)	AGTPBP1	Single nucleotide variant (synonymous variant)	AGTPBP1-related condition	GLikely benign
Select item 2438929	NM_001330701.2(AGTPBP1):c.3206G>T (p.Cys1069Phe)	AGTPBP1 (C1029F +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GUncertain significance
Select item 2227107	NM_001330701.2(AGTPBP1):c.3176A>G (p.Lys1059Arg)	AGTPBP1 (K1019R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065792	NM_001330701.2(AGTPBP1):c.3013G>A (p.Ala1005Thr)	AGTPBP1 (A1005T +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GUncertain significance
Select item 599367	NM_001330701.2(AGTPBP1):c.2969A>T (p.His990Leu)	AGTPBP1 (H990L +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GPathogenic
Select item 1029297	NM_001330701.2(AGTPBP1):c.2843G>A (p.Arg948Gln)	AGTPBP1 (R908Q +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GUncertain significance
Select item 599381	NM_001330701.2(AGTPBP1):c.2842C>T (p.Arg948Ter)	AGTPBP1 (R1000* +3 more)	Single nucleotide variant (nonsense)	Global developmental delay +1 more	GPathogenic
Select item 2444496	NM_001330701.2(AGTPBP1):c.2833C>T (p.Gln945Ter)	AGTPBP1 (Q905* +3 more)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GLikely pathogenic
Select item 2374799	NM_001330701.2(AGTPBP1):c.2824C>T (p.Pro942Ser)	AGTPBP1 (P954S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599369	NM_001330701.2(AGTPBP1):c.2752C>T (p.Arg918Trp)	AGTPBP1 (R918W +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GPathogenic
Select item 2438928	NM_001330701.2(AGTPBP1):c.2738T>A (p.Val913Asp)	AGTPBP1 (V873D +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GUncertain significance
Select item 522817	NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs)	AGTPBP1	Deletion (nonsense)	AGTPBP1-related condition	GPathogenic
Select item 2384398	NM_001330701.2(AGTPBP1):c.2694_2695insTAT (p.Ser898_Asn899insTyr)	AGTPBP1	Insertion (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 599365	NM_001330701.2(AGTPBP1):c.2566C>T (p.Gln856Ter)	AGTPBP1 (Q856* +3 more)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GPathogenic
Select item 599366	NM_001330701.2(AGTPBP1):c.2552C>T (p.Thr851Met)	AGTPBP1 (T851M +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GPathogenic
Select item 1323865	NM_001330701.2(AGTPBP1):c.2481T>A (p.Tyr827Ter)	AGTPBP1 (Y787* +3 more)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GLikely pathogenic
Select item 2455059	NM_001330701.2(AGTPBP1):c.2433C>A (p.Phe811Leu)	AGTPBP1 (F811L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527005	NM_001330701.2(AGTPBP1):c.2422A>G (p.Lys808Glu)	AGTPBP1 (K860E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983265	NM_001330701.2(AGTPBP1):c.2396G>T (p.Arg799Leu)	AGTPBP1 (R759L +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GLikely pathogenic
Select item 977153	NM_001330701.2(AGTPBP1):c.2395C>T (p.Arg799Cys)	AGTPBP1 (R759C +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GUncertain significance
Select item 599368	NM_001330701.2(AGTPBP1):c.2362C>T (p.Gln788Ter)	AGTPBP1 (Q788* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GLikely pathogenic
Select item 2219344	NM_001330701.2(AGTPBP1):c.2359G>A (p.Val787Ile)	AGTPBP1 (V787I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522816	NM_001330701.2(AGTPBP1):c.2336-1G>T	AGTPBP1	Single nucleotide variant (splice acceptor variant)	AGTPBP1-related condition	GPathogenic
Select item 599380	NM_001330701.2(AGTPBP1):c.2195A>G (p.Tyr732Cys)	AGTPBP1 (Y784C +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GLikely pathogenic
Select item 3044308	NM_001330701.2(AGTPBP1):c.2186+10T>G	AGTPBP1	Single nucleotide variant (intron variant)	AGTPBP1-related condition	GBenign
Select item 599379	NM_001330701.2(AGTPBP1):c.2186+2T>G	AGTPBP1	Single nucleotide variant (splice donor variant)	Motor polyneuropathy +2 more	GLikely pathogenic
Select item 2595203	NM_001330701.2(AGTPBP1):c.2164C>T (p.Arg722Cys)	AGTPBP1 (R722C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275191	NM_001330701.2(AGTPBP1):c.2147T>A (p.Phe716Tyr)	AGTPBP1 (F716Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599370	NM_001330701.2(AGTPBP1):c.2080T>G (p.Tyr694Asp)	AGTPBP1 (Y694D +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GPathogenic
Select item 2546366	NM_001330701.2(AGTPBP1):c.2072G>A (p.Arg691His)	AGTPBP1 (R703H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2690507	NM_001330701.2(AGTPBP1):c.2016-2A>G	AGTPBP1	Single nucleotide variant (splice acceptor variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GLikely pathogenic
Select item 3040871	NM_001330701.2(AGTPBP1):c.1947C>T (p.Pro649=)	AGTPBP1	Single nucleotide variant (synonymous variant)	AGTPBP1-related condition	GLikely benign
Select item 2307967	NM_001330701.2(AGTPBP1):c.1880C>G (p.Pro627Arg)	AGTPBP1 (P627R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226392	NM_001330701.2(AGTPBP1):c.1846G>A (p.Val616Ile)	AGTPBP1 (V668I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311461	NM_001330701.2(AGTPBP1):c.1607G>A (p.Arg536Gln)	AGTPBP1 (R496Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029296	NM_001330701.2(AGTPBP1):c.1606C>T (p.Arg536Ter)	AGTPBP1 (R496* +3 more)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GLikely pathogenic
Select item 2308266	NM_001330701.2(AGTPBP1):c.1558A>G (p.Ile520Val)	AGTPBP1 (I480V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294925	NM_001330701.2(AGTPBP1):c.1364C>G (p.Pro455Arg)	AGTPBP1 (P455R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221369	NM_001330701.2(AGTPBP1):c.1360G>A (p.Gly454Ser)	AGTPBP1 (G454S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055657	NM_001330701.2(AGTPBP1):c.1353A>G (p.Lys451=)	AGTPBP1	Single nucleotide variant (synonymous variant)	AGTPBP1-related condition	GBenign
Select item 983264	NM_001330701.2(AGTPBP1):c.1240C>T (p.Arg414Ter)	AGTPBP1 (R374* +3 more)	Single nucleotide variant (nonsense)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GPathogenic
Select item 2296956	NM_001330701.2(AGTPBP1):c.1201A>G (p.Thr401Ala)	AGTPBP1 (T401A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506865	NM_001330701.2(AGTPBP1):c.1182del (p.Phe394fs)	AGTPBP1 (F354fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2584838	NM_001330701.2(AGTPBP1):c.1096G>A (p.Val366Ile)	AGTPBP1 (V378I +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GUncertain significance
Select item 2265773	NM_001330701.2(AGTPBP1):c.1077A>C (p.Leu359Phe)	AGTPBP1 (L319F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043439	NM_001330701.2(AGTPBP1):c.927G>A (p.Arg309=)	AGTPBP1	Single nucleotide variant (synonymous variant +1 more)	AGTPBP1-related condition	GLikely benign
Select item 3040108	NM_001330701.2(AGTPBP1):c.918G>A (p.Leu306=)	AGTPBP1	Single nucleotide variant (synonymous variant +1 more)	AGTPBP1-related condition	GLikely benign
Select item 2577529	NM_001330701.2(AGTPBP1):c.910-1G>A	AGTPBP1	Single nucleotide variant (intron variant +1 more)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GPathogenic
Select item 984979	NM_001330701.2(AGTPBP1):c.820_821del (p.Gln274fs)	AGTPBP1 (Q274fs +1 more)	Deletion (frameshift variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GPathogenic
Select item 2290084	NM_001330701.2(AGTPBP1):c.812G>T (p.Gly271Val)	AGTPBP1 (G271V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038621	NM_001330701.2(AGTPBP1):c.662+8A>G	AGTPBP1	Single nucleotide variant (intron variant)	AGTPBP1-related condition	GBenign
Select item 2506626	NM_001330701.2(AGTPBP1):c.457G>A (p.Ala153Thr)	AGTPBP1 (A153T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292135	NM_001330701.2(AGTPBP1):c.443A>C (p.Lys148Thr)	AGTPBP1 (K200T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029298	NM_001330701.2(AGTPBP1):c.437-3C>A	AGTPBP1	Single nucleotide variant (intron variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GUncertain significance
Select item 440961	NM_001330701.2(AGTPBP1):c.410C>A (p.Ser137Tyr)	AGTPBP1 (S189Y +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2372300	NM_001330701.2(AGTPBP1):c.397G>A (p.Val133Ile)	AGTPBP1 (V185I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368147	NM_001330701.2(AGTPBP1):c.394A>G (p.Met132Val)	AGTPBP1 (M132V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056639	NM_001330701.2(AGTPBP1):c.393A>G (p.Leu131=)	AGTPBP1	Single nucleotide variant (synonymous variant)	AGTPBP1-related condition	GBenign
Select item 2404695	NM_001330701.2(AGTPBP1):c.304G>A (p.Val102Met)	AGTPBP1 (V102M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327268	NM_001330701.2(AGTPBP1):c.275A>G (p.Glu92Gly)	AGTPBP1 (E144G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228949	NM_001330701.2(AGTPBP1):c.38C>T (p.Thr13Ile)	AGTPBP1 (T65I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440454	NM_001330701.2(AGTPBP1):c.-34+1G>A	AGTPBP1, LOC130001960	Single nucleotide variant (splice donor variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GLikely pathogenic
Select item 1201667	NM_001330701.2(AGTPBP1):c.-66del	AGTPBP1, LOC130001960 (R53fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506621	NM_001330701.2(AGTPBP1):c.-87T>G	AGTPBP1, LOC130001960	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1306421	NM_001330701.2(AGTPBP1):c.-88_-87delinsTC	AGTPBP1, LOC130001960 (A45V)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1296972	NM_001330701.2(AGTPBP1):c.-87T>C	AGTPBP1, LOC130001960	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3056478	NM_001330701.2(AGTPBP1):c.-179GCC[4]	AGTPBP1, LOC130001960 (A19del)	Microsatellite (inframe deletion +1 more)	AGTPBP1-related condition	GBenign
Select item 992321	NM_001286715.1(AGTPBP1):c.11_26dup (p.Ser9fs)	LOC130001960, AGTPBP1 (S9fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1308442	NM_001330701.2(AGTPBP1):c.-206G>A	AGTPBP1, LOC130001960 (A6T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527533	GRCh37/hg19 9q21.33(chr9:87881345-88749247)	AGTPBP1, GOLM1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic

<< First< Prev

Page of 2