TOP3A[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 477

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	MYO15A, NT5M +252 more	Copy number gain	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	AKAP10, ALDH3A1 +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	LOC130060419, LOC130060420 +248 more	Copy number gain	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	LOC130060406, LOC130060407 +248 more	Copy number gain	See cases	GPathogenic
Select item 154919	GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1	MIR6778, MPRIP +158 more	Copy number loss	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146492	GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1	ALKBH5, ATPAF2 +141 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	AKAP10, ALDH3A1 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	AKAP10, ALDH3A1 +250 more	Copy number gain	See cases	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	FAM106A, FAM106B +248 more	Duplication	Autism	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	AKAP10, ALDH3A1 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	AKAP10, ALDH3A1 +244 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	LOC130060411, LOC130060412 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	AKAP10, ALDH3A1 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	SLC5A10, SMCR2 +242 more	Copy number gain	See cases	GPathogenic
Select item 57224	GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3	ALKBH5, ATPAF2 +161 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 150379	GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	AKAP10, ALDH3A1 +226 more	Copy number loss	See cases	GPathogenic
Select item 152568	GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	AKAP10, ALDH3A1 +220 more	Copy number loss	See cases	GPathogenic
Select item 153282	GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1	LOC130060377, LOC130060378 +143 more	Copy number loss	See cases	GPathogenic
Select item 60458	GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1	LOC125177431, LOC125177432 +117 more	Copy number loss	See cases	GPathogenic
Select item 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 58694	GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	ALKBH5, ATPAF2 +67 more	Copy number gain	See cases	GPathogenic
Select item 150383	GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3	ALKBH5, ATPAF2 +70 more	Copy number gain	See cases	GLikely benign
Select item 146600	GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1	ALKBH5, ATPAF2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154395	GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3	ALKBH5, DRG2 +30 more	Copy number gain	See cases	GPathogenic
Select item 1440374	NM_004618.5(TOP3A):c.2999_3003del (p.Asn1000fs)	TOP3A (N1000fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1922093	NM_004618.5(TOP3A):c.2989del (p.Cys997fs)	TOP3A (C902fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2022045	NM_004618.5(TOP3A):c.2980dup (p.Arg994fs)	TOP3A (R899fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2135680	NM_004618.5(TOP3A):c.2974C>T (p.His992Tyr)	TOP3A (H897Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955966	NM_004618.5(TOP3A):c.2962C>T (p.His988Tyr)	TOP3A (H893Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694833	NM_004618.5(TOP3A):c.2946G>A (p.Arg982=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766034	NM_004618.5(TOP3A):c.2945G>A (p.Arg982Gln)	TOP3A (R982Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078143	NM_004618.5(TOP3A):c.2903G>A (p.Arg968Gln)	TOP3A (R968Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991799	NM_004618.5(TOP3A):c.2887A>G (p.Arg963Gly)	TOP3A (R868G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014956	NM_004618.5(TOP3A):c.2880G>A (p.Ser960=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053039	NM_004618.5(TOP3A):c.2879C>T (p.Ser960Leu)	TOP3A (S865L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1649646	NM_004618.5(TOP3A):c.2853A>G (p.Thr951=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814927	NM_004618.5(TOP3A):c.2832T>A (p.Thr944=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2754383	NM_004618.5(TOP3A):c.2828-5G>A	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998811	NM_004618.5(TOP3A):c.2828-18C>T	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826351	NM_004618.5(TOP3A):c.2828-20T>C	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896242	NM_004618.5(TOP3A):c.2827+14G>A	TOP3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1521601	NM_004618.5(TOP3A):c.2821G>A (p.Ala941Thr)	TOP3A (A941T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2057796	NM_004618.5(TOP3A):c.2820C>A (p.Thr940=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 916326	NM_004618.5(TOP3A):c.2820C>T (p.Thr940=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1439839	NM_004618.5(TOP3A):c.2809G>A (p.Asp937Asn)	TOP3A (D842N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558861	NM_004618.5(TOP3A):c.2808C>T (p.Val936=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699252	NM_004618.5(TOP3A):c.2779G>T (p.Glu927Ter)	TOP3A (E832* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GUncertain significance
Select item 1981430	NM_004618.5(TOP3A):c.2775G>A (p.Pro925=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913504	NM_004618.5(TOP3A):c.2774C>T (p.Pro925Leu)	TOP3A (P925L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2809775	NM_004618.5(TOP3A):c.2769C>G (p.Ala923=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016708	NM_004618.5(TOP3A):c.2754G>A (p.Gln918=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918582	NM_004618.5(TOP3A):c.2748G>T (p.Gly916=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823281	NM_004618.5(TOP3A):c.2745G>A (p.Lys915=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039213	NM_004618.5(TOP3A):c.2742C>G (p.Asn914Lys)	TOP3A (N914K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560202	NM_004618.5(TOP3A):c.2718del (p.Thr907fs)	TOP3A (T812fs +1 more)	Deletion (frameshift variant)	Microcephaly, growth restriction, and increased sister chromatid exchange 2	GPathogenic
Select item 2209797	NM_004618.5(TOP3A):c.2710G>A (p.Val904Ile)	TOP3A (V904I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190830	NM_004618.5(TOP3A):c.2709C>T (p.Ser903=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479372	NM_004618.5(TOP3A):c.2669G>A (p.Gly890Asp)	TOP3A (G795D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1606467	NM_004618.5(TOP3A):c.2640C>T (p.His880=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1901417	NM_004618.5(TOP3A):c.2625A>T (p.Pro875=)	TOP3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2372213	NM_004618.5(TOP3A):c.2611C>G (p.Leu871Val)	TOP3A (L776V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 5