ClinVar for Gene (Select 146802) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319903	NM_001099646.3(SLC47A2):c.901A>T (p.Thr301Ser)	SLC47A2 (T337S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319901	NM_001099646.3(SLC47A2):c.146T>C (p.Phe49Ser)	SLC47A2 (F49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319900	NM_001099646.3(SLC47A2):c.383C>A (p.Ala128Glu)	SLC47A2 (A128E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319899	NM_001099646.3(SLC47A2):c.823A>G (p.Ile275Val)	SLC47A2 (I275V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257582	NM_001099646.3(SLC47A2):c.1320C>G (p.Ala440=)	SLC47A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 2647563	NM_001099646.3(SLC47A2):c.1572C>T (p.His524=)	SLC47A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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	LLGL1, MAPK7 +44 more	Copy number loss	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	ALKBH5, ATPAF2 +48 more	Copy number loss	not provided	GPathogenic
Select item 1340611	GRCh37/hg19 17p11.2(chr17:19559095-19708057)x3	ALDH3A1, ALDH3A2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047863	GRCh37/hg19 17p11.2(chr17:17145361-20137943)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 980119	GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1	ULK2, SLC47A2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 980114	GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	SMCR8, SNORD3A +47 more	Copy number gain	not provided	GPathogenic
Select item 815917	GRCh37/hg19 17p11.2(chr17:19574666-19624308)x1	ALDH3A2, SLC47A2	Copy number loss	not provided	GUncertain significance
Select item 815916	GRCh37/hg19 17p11.2(chr17:19356083-19917814)x3	SLC47A2, ULK2 +5 more	Copy number gain	not provided	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 688255	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	AKAP10, ALDH3A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 564418	GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3	AKAP10, B9D1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 564413	GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564412	GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564411	GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	not provided	GPathogenic
Select item 564409	GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 564408	GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1	GID4, GRAP +47 more	Copy number loss	not provided	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 523257	GRCh37/hg19 17p11.2(chr17:16842163-20217777)	COPS3, DRC3 +47 more	Copy number gain	Delayed gross motor development +3 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 496743	arr[hg19]17p11.2(16,757,111-20,219,651)x3	MYO15A, NT5M +47 more	Duplication	Potocki-Lupski syndrome	GPathogenic
Select item 443760	GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 443148	GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442933	GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	B9D1, AKAP10 +51 more	Copy number loss	See cases	GPathogenic
Select item 442905	GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442859	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x1	AKAP10, ALDH3A1 +10 more	Copy number loss	See cases	GLikely pathogenic
Select item 442858	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	AKAP10, ALDH3A1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 442795	GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442542	GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442368	GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 442167	GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 441899	GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	See cases	GPathogenic
Select item 441894	GRCh37/hg19 17p11.2(chr17:19556273-20111304)x1	AKAP10, ALDH3A1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 441875	GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441841	GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395659	GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 394560	GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	ADORA2B, AKAP10 +59 more	Copy number loss	See cases	GPathogenic
Select item 394152	GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 393895	GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 393812	GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 253750	GRCh37/hg19 17p11.2(chr17:19566664-19845308)x3	SLC47A2, ALDH3A2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253648	GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic

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