LGALS9B[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	LOC130060373, LOC130060374 +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	ADORA2B, AKAP10 +314 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	LOC130060409, LOC130060410 +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	AKAP10, ALDH3A1 +281 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	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 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	SNORD3B-2, SNORD3C +253 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 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	FLII, FOXO3B +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 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 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	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	LOC130060350, LOC130060351 +245 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	LOC130060452, LOC130060453 +246 more	Copy number gain	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 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 154666	GRCh38/hg38 17p11.2(chr17:19744033-21598663)x3	AKAP10, ALDH3A1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 150191	GRCh38/hg38 17p11.2(chr17:20268155-20935953)x1	CCDC144NL-AS1, CDRT15L2 +10 more	Copy number loss	See cases	GLikely benign
Select item 2647568	NM_001367292.2(LGALS9B):c.1059C>T (p.His353=)	LGALS9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282234	NM_001367292.2(LGALS9B):c.998G>C (p.Arg333Pro)	LGALS9B (R333P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509028	NM_001367292.2(LGALS9B):c.942A>C (p.Glu314Asp)	LGALS9B (E314D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547855	NM_001367292.2(LGALS9B):c.913C>G (p.Gln305Glu)	LGALS9B (Q304E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324353	NM_001367292.2(LGALS9B):c.880A>T (p.Ser294Cys)	LGALS9B (S293C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325009	NM_001367292.2(LGALS9B):c.878G>A (p.Arg293Gln)	LGALS9B (R292Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266563	NM_001367292.2(LGALS9B):c.814C>T (p.Arg272Cys)	LGALS9B (R271C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512153	NM_001367292.2(LGALS9B):c.812C>G (p.Pro271Arg)	LGALS9B (P270R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524289	NM_001367292.2(LGALS9B):c.796G>A (p.Ala266Thr)	LGALS9B (A266T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527559	NM_001367292.2(LGALS9B):c.740C>T (p.Thr247Ile)	LGALS9B (T247I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621815	NM_001367292.2(LGALS9B):c.625T>C (p.Ser209Pro)	LGALS9B (S209P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2596946	NM_001367292.2(LGALS9B):c.617A>G (p.Gln206Arg)	LGALS9B (Q206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647569	NM_001367292.2(LGALS9B):c.583A>T (p.Thr195Ser)	LGALS9B (T195S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2263026	NM_001367292.2(LGALS9B):c.430T>C (p.Tyr144His)	LGALS9B (Y144H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490150	NM_001367292.2(LGALS9B):c.330C>A (p.Phe110Leu)	LGALS9B (F110L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559179	NM_001367292.2(LGALS9B):c.272T>G (p.Met91Arg)	LGALS9B (M91R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281041	NM_001367292.2(LGALS9B):c.218T>C (p.Val73Ala)	LGALS9B (V73A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595003	NM_001367292.2(LGALS9B):c.152C>T (p.Thr51Met)	LGALS9B (T51M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555156	NM_001367292.2(LGALS9B):c.142G>A (p.Asp48Asn)	LGALS9B (D48N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2461723	NM_001367292.2(LGALS9B):c.73C>T (p.Leu25Phe)	LGALS9B (L25F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472730	NM_001367292.2(LGALS9B):c.22G>T (p.Ala8Ser)	LGALS9B (A8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403031	NM_001367292.2(LGALS9B):c.17C>G (p.Ser6Cys)	LGALS9B (S6C)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2333482	NM_001367292.2(LGALS9B):c.12C>G (p.Ser4Arg)	LGALS9B (S4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	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 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	AKAP10, ALDH3A1 +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 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 441899	GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	See cases	GPathogenic
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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 226261	GRCh37/hg19 17p11.2(chr17:20051012-20592172)	CDRT15L2, SPECC1 +1 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 71