23287[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +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 3276665	NM_001330701.2(AGTPBP1):c.3659T>C (p.Leu1220Ser)	AGTPBP1 (L1220S +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	GLikely benign
Select item 3097337	NM_001330701.2(AGTPBP1):c.3589A>G (p.Ile1197Val)	AGTPBP1 (I1157V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308441	NM_001330701.2(AGTPBP1):c.3527A>G (p.Glu1176Gly)	AGTPBP1 (E1136G +3 more)	Single nucleotide variant (missense variant)	not provided +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 disorder	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 3097328	NM_001330701.2(AGTPBP1):c.3355G>A (p.Gly1119Ser)	AGTPBP1 (G1079S +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 disorder	GLikely benign
Select item 3097320	NM_001330701.2(AGTPBP1):c.3236A>G (p.Lys1079Arg)	AGTPBP1 (K1039R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3097311	NM_001330701.2(AGTPBP1):c.2908C>T (p.Arg970Cys)	AGTPBP1 (R1022C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	not provided	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)	not provided +1 more	GConflicting classifications of pathogenicity
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 disorder	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 3097298	NM_001330701.2(AGTPBP1):c.2516A>G (p.Asp839Gly)	AGTPBP1 (D851G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3341661	NM_001330701.2(AGTPBP1):c.2466G>A (p.Lys822=)	AGTPBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 disorder	GPathogenic
Select item 3097287	NM_001330701.2(AGTPBP1):c.2276G>A (p.Gly759Asp)	AGTPBP1 (G759D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097284	NM_001330701.2(AGTPBP1):c.2252T>G (p.Phe751Cys)	AGTPBP1 (F711C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599380	NM_001330701.2(AGTPBP1):c.2195A>G (p.Tyr732Cys)	AGTPBP1 (Y784C +3 more)	Single nucleotide variant (missense variant)	Aplasia/Hypoplasia of the cerebellum +1 more	GLikely pathogenic
Select item 3044308	NM_001330701.2(AGTPBP1):c.2186+10T>G	AGTPBP1	Single nucleotide variant (intron variant)	AGTPBP1-related disorder	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 disorder	GLikely benign
Select item 3097271	NM_001330701.2(AGTPBP1):c.1907A>G (p.Asn636Ser)	AGTPBP1 (N688S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3097265	NM_001330701.2(AGTPBP1):c.1877A>T (p.Asp626Val)	AGTPBP1 (D638V +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 3365771	NM_001330701.2(AGTPBP1):c.1705A>G (p.Lys569Glu)	AGTPBP1 (K529E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3097260	NM_001330701.2(AGTPBP1):c.1643C>T (p.Pro548Leu)	AGTPBP1 (P560L +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 3097251	NM_001330701.2(AGTPBP1):c.1478C>T (p.Thr493Ile)	AGTPBP1 (T505I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276641	NM_001330701.2(AGTPBP1):c.1382C>G (p.Ala461Gly)	AGTPBP1 (A461G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097249	NM_001330701.2(AGTPBP1):c.1379C>T (p.Thr460Met)	AGTPBP1 (T420M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097244	NM_001330701.2(AGTPBP1):c.1373T>C (p.Val458Ala)	AGTPBP1 (V458A +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 disorder	GBenign
Select item 3276650	NM_001330701.2(AGTPBP1):c.1307A>G (p.Tyr436Cys)	AGTPBP1 (Y396C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3340642	NM_001330701.2(AGTPBP1):c.988C>T (p.Arg330Ter)	AGTPBP1 (R330* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3043439	NM_001330701.2(AGTPBP1):c.927G>A (p.Arg309=)	AGTPBP1	Single nucleotide variant (synonymous variant +1 more)	AGTPBP1-related disorder	GLikely benign
Select item 3040108	NM_001330701.2(AGTPBP1):c.918G>A (p.Leu306=)	AGTPBP1	Single nucleotide variant (synonymous variant +1 more)	AGTPBP1-related disorder	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 3097364	NM_001330701.2(AGTPBP1):c.785G>A (p.Arg262Gln)	AGTPBP1 (R262Q +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 disorder	GBenign
Select item 3276657	NM_001330701.2(AGTPBP1):c.547T>G (p.Leu183Val)	AGTPBP1 (L235V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097359	NM_001330701.2(AGTPBP1):c.510G>T (p.Leu170Phe)	AGTPBP1 (L170F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3097354	NM_001330701.2(AGTPBP1):c.445T>C (p.Phe149Leu)	AGTPBP1 (F201L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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