26439[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 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 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 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 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	DRC3, LOC130060351 +248 more	Duplication	Autism	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 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 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 60134	GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	AKAP10, ALDH3A1 +91 more	Copy number gain	See cases	GUncertain significance
Select item 31103	NC_000017.11:g.(?_18856298)_(20402192_?)del	AKAP10, ALDH3A1 +87 more	Deletion	Meckel syndrome, type 9	GPathogenic
Select item 148929	GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 144242	GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GPathogenic
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 153249	GRCh38/hg38 17p11.2(chr17:19533508-19751472)x1	ALDH3A1, ALDH3A2 +8 more	Copy number loss	See cases	GLikely benign
Select item 3164955	NM_001099646.3(SLC47A2):c.1673C>T (p.Thr558Met)	SLC47A2 (T594M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362500	NM_001099646.3(SLC47A2):c.1646C>T (p.Ala549Val)	SLC47A2 (A549V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365864	NM_001099646.3(SLC47A2):c.1643C>T (p.Ala548Val)	SLC47A2 (A548V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2463958	NM_001099646.3(SLC47A2):c.1622G>A (p.Arg541His)	SLC47A2 (R541H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164954	NM_001099646.3(SLC47A2):c.1621C>T (p.Arg541Cys)	SLC47A2 (R577C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647563	NM_001099646.3(SLC47A2):c.1572C>T (p.His524=)	SLC47A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3164953	NM_001099646.3(SLC47A2):c.1541T>G (p.Val514Gly)	SLC47A2 (V514G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588060	NM_001099646.3(SLC47A2):c.1539C>G (p.His513Gln)	SLC47A2 (H513Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595542	NM_001099646.3(SLC47A2):c.1520A>C (p.Tyr507Ser)	SLC47A2 (Y543S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621316	NM_001099646.3(SLC47A2):c.1489G>C (p.Gly497Arg)	SLC47A2 (G533R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164952	NM_001099646.3(SLC47A2):c.1271C>T (p.Thr424Ile)	SLC47A2 (T438I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361933	NM_001099646.3(SLC47A2):c.1252C>A (p.Pro418Thr)	SLC47A2 (P418T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495622	NM_001099646.3(SLC47A2):c.1241T>A (p.Ile414Asn)	SLC47A2 (I428N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302338	NM_001099646.3(SLC47A2):c.1199A>C (p.Lys400Thr)	SLC47A2 (K436T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300054	NM_001099646.3(SLC47A2):c.1161C>G (p.Ile387Met)	SLC47A2 (I401M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468385	NM_001099646.3(SLC47A2):c.1052G>A (p.Ser351Asn)	SLC47A2 (S387N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392520	NM_001099646.3(SLC47A2):c.927C>G (p.Ser309Arg)	SLC47A2 (S345R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353018	NM_001099646.3(SLC47A2):c.874G>T (p.Ala292Ser)	SLC47A2 (A292S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353017	NM_001099646.3(SLC47A2):c.873G>T (p.Gln291His)	SLC47A2 (Q291H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536777	NM_001099646.3(SLC47A2):c.791T>C (p.Leu264Pro)	SLC47A2 (L264P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355396	NM_001099646.3(SLC47A2):c.761C>G (p.Pro254Arg)	SLC47A2 (P254R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551450	NM_001099646.3(SLC47A2):c.737G>A (p.Ser246Asn)	SLC47A2 (S246N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291402	NM_001099646.3(SLC47A2):c.731G>T (p.Trp244Leu)	SLC47A2 (W244L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164963	NM_001099646.3(SLC47A2):c.593A>G (p.Asn198Ser)	SLC47A2 (N198S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164962	NM_001099646.3(SLC47A2):c.532-8T>C	SLC47A2 (L211S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164961	NM_001099646.3(SLC47A2):c.532-21G>T	SLC47A2 (A207S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 709296	NM_001099646.3(SLC47A2):c.532-64G>A	SLC47A2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3164960	NM_001099646.3(SLC47A2):c.475C>T (p.Pro159Ser)	SLC47A2 (P159S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526564	NM_001099646.3(SLC47A2):c.464T>C (p.Met155Thr)	SLC47A2 (M155T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164957	NM_001099646.3(SLC47A2):c.374C>T (p.Pro125Leu)	SLC47A2 (P125L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511717	NM_001099646.3(SLC47A2):c.326G>A (p.Gly109Asp)	SLC47A2 (G109D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164956	NM_001099646.3(SLC47A2):c.250G>A (p.Val84Ile)	SLC47A2 (V84I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2287759	NM_001099646.3(SLC47A2):c.183C>A (p.His61Gln)	SLC47A2 (H61Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590261	NM_001099646.3(SLC47A2):c.178G>A (p.Gly60Arg)	SLC47A2 (G60R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281748	NM_001099646.3(SLC47A2):c.164G>A (p.Ser55Asn)	SLC47A2 (S55N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345896	NM_001099646.3(SLC47A2):c.41G>A (p.Gly14Asp)	SLC47A2 (G14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	AKAP10, ALDH3A1 +44 more	Copy number loss	not provided	GPathogenic
Select item 1809101	GRCh37/hg19 17p11.2(chr17:19423469-19588176)x1	ALDH3A2, SLC47A1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic

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