ClinVar for Gene (Select 3492) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +65 more	Copy number loss	not specified	GPathogenic
Select item 2688319	NC_000014.9:g.105852108C>T	IGH, IGHM	Single nucleotide variant	not specified	GBenign
Select item 2688227	NC_000014.9:g.105855558C>T	IGH, IGHM	Single nucleotide variant	not specified	GBenign
Select item 2688041	NC_000014.9:g.105856283G>A	IGH	Single nucleotide variant	not specified	GBenign
Select item 2688015	NC_000014.9:g.105851916A>T	IGH	Single nucleotide variant	not specified	GBenign
Select item 2688004	NC_000014.9:g.105852010C>T	IGHM, IGH	Single nucleotide variant	not specified	GBenign
Select item 2687990	NC_000014.9:g.105855808A>G	IGH, IGHM	Single nucleotide variant	not specified	GBenign
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	DIO3OS, WDR20 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684747	GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	ADSS1, AHNAK2 +32 more	Copy number gain	not provided	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644934	NC_000014.9:g.106639380T>C	IGH, IGHV4-61	Single nucleotide variant	not provided	GLikely benign
Select item 2644933	NC_000014.9:g.106627284G>C	IGH, IGHV4-59	Single nucleotide variant	not provided	GLikely benign
Select item 2644932	NC_000014.9:g.106422120G>C	IGH, IGHV4-39	Single nucleotide variant	not provided	GLikely benign
Select item 2644931	NC_000014.9:g.106235357C>G	IGH, IGHV3-21	Single nucleotide variant	not provided	GLikely benign
Select item 2644930	NC_000014.9:g.106165243G>A	IGH, IGHV3-16	Single nucleotide variant	not provided	GLikely benign
Select item 2644929	NC_000014.9:g.105909909A>C	IGH, IGHD1-7	Single nucleotide variant	not provided	GLikely benign
Select item 2644928	NC_000014.9:g.105909907G>A	IGH, IGHD1-7	Single nucleotide variant	not provided	GLikely benign
Select item 2644927	NC_000014.9:g.105644567T>C	IGH, IGHG2	Single nucleotide variant	not provided	GLikely benign
Select item 2644926	NC_000014.9:g.105644563G>C	IGH, IGHG2	Single nucleotide variant	not provided	GLikely benign
Select item 2644925	NC_000014.9:g.105601478G>A	IGH, IGHE	Single nucleotide variant	not provided	GLikely benign
Select item 2644924	NC_000014.9:g.105600505T>C	IGH, IGHE	Single nucleotide variant	not provided	GLikely benign
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2577008	GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	ADSS1, AHNAK2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2428589	NC_000014.9:g.105855203G>A	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GBenign
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1526437	GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	SIVA1, TDRD9 +67 more	Copy number loss	not specified	GPathogenic
Select item 1341203	GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	ADSS1, AHNAK2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1339539	NC_000014.9:g.105856013G>T	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GLikely pathogenic
Select item 980625	GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	IGHV3-23, IGHM +62 more	Copy number loss	not provided	GPathogenic
Select item 973583	NC_000014.9:g.105855132dup	IGH, IGHM	Duplication	Autosomal recessive agammaglobulinemia 1	GLikely pathogenic
Select item 973003	GRCh37/hg19 14q32.33(chr14:106763887-107208510)x3	IGH	Copy number gain	not provided	Gnot provided
Select item 973002	GRCh37/hg19 14q32.33(chr14:106335742-106732385)x3	IGH, IGHD3-3 +1 more	Copy number gain	not provided	Gnot provided
Select item 972968	GRCh37/hg19 14q32.33(chr14:106335742-106732385)x3	IGHV3-23, IGH +1 more	Copy number gain	not provided	Gnot provided
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	PPP2R5C, RCOR1 +112 more	Copy number loss	See cases	GPathogenic
Select item 815683	GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1	IGHA2, CEP170B +27 more	Copy number loss	not provided	GPathogenic
Select item 815682	GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1	CLBA1, CRIP1 +34 more	Copy number loss	not provided	GPathogenic
Select item 815679	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	CEP170B, BAG5 +56 more	Copy number loss	not provided	GPathogenic
Select item 811340	NC_000014.9:g.105854900G>T	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GLikely benign
Select item 810941	NC_000014.9:g.105855041A>G	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GBenign
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 687726	GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	ADSS1, AHNAK2 +67 more	Copy number loss	not provided	GPathogenic
Select item 687600	GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1	ADSS1, AHNAK2 +33 more	Copy number loss	not provided	GUncertain significance
Select item 687405	GRCh37/hg19 14q32.33(chr14:105500759-106044679)x3	PACS2, TEDC1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 687365	GRCh37/hg19 14q32.33(chr14:105770143-106207205)x3	BRF1, CRIP1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 686480	GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1	ADSS1, AHNAK2 +58 more	Copy number loss	not provided	GPathogenic
Select item 685986	GRCh37/hg19 14q32.33(chr14:105677530-106044679)x3	BRF1, BTBD6 +8 more	Copy number gain	not provided	GUncertain significance
Select item 625744	GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	ADSS1, AHNAK2 +98 more	Copy number gain	not provided	GPathogenic
Select item 564131	GRCh37/hg19 14q32.33(chr14:106020225-107285437)x1	IGHG1, IGH +10 more	Copy number loss	not provided	GLikely benign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443644	GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	ADSS1, AHNAK2 +96 more	Copy number loss	See cases	GPathogenic
Select item 443538	GRCh37/hg19 14q32.33(chr14:104915608-107285437)x1	ADSS1, AHNAK2 +34 more	Copy number loss	See cases	GPathogenic
Select item 443301	GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1	ADSS1, AHNAK2 +49 more	Copy number loss	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 442421	GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	PLD4, PPP1R13B +56 more	Copy number loss	See cases	GPathogenic
Select item 442307	GRCh37/hg19 14q32.33(chr14:105814886-107285437)x1	CRIP1, CRIP2 +17 more	Copy number loss	See cases	GUncertain significance
Select item 441703	GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1	ADSS1, AHNAK2 +62 more	Copy number loss	See cases	GPathogenic
Select item 441644	GRCh37/hg19 14q32.33(chr14:105587643-106560949)x3	BRF1, BTBD6 +20 more	Copy number gain	See cases	GLikely benign
Select item 439815	NC_000014.9:g.105856156C>T	IGH, IGHM	Single nucleotide variant	not provided +1 more	GBenign
Select item 439814	NC_000014.9:g.105855988G>C	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GBenign
Select item 427234	NC_000014.9:g.105856087G>A	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 221866	GRCh37/hg19 14q32.33(chr14:106124720-106949307)x3	IGH, IGHA1 +6 more	Copy number gain	Premature ovarian failure	GBenign
Select item 161083	GRCh38/hg38 14q32.33(chr14:106112755-106318409)x3	IGH, IGHV1-18 +12 more	Copy number gain	See cases	GBenign
Select item 161007	GRCh38/hg38 14q32.33(chr14:106450995-106714110)x3	IGH, IGHV1-45 +12 more	Copy number gain	See cases	GBenign
Select item 157326	Single allele	IGH, IGHD3-3 +1 more	Duplication	Normal pregnancy	Gnot provided
Select item 157325	Single allele	IGH, IGHA1 +10 more	Duplication	Normal pregnancy	Gnot provided
Select item 157324	Single allele	CRIP1, IGH +13 more	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 156278	NC_000014.9:g.105854468A>C	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	PPP2R5C, RCOR1 +571 more	Copy number loss	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	C14orf180, CDC42BPB +367 more	Copy number loss	See cases	GPathogenic
Select item 154889	GRCh38/hg38 14q32.33(chr14:105453295-106879298)x1	CRIP1, CRIP2 +127 more	Copy number loss	See cases	GPathogenic
Select item 154876	GRCh38/hg38 14q32.33(chr14:106692695-106777273)x1	IGH, IGHV1-69 +5 more	Copy number loss	See cases	GBenign
Select item 154875	GRCh38/hg38 14q32.33(chr14:106692695-106777273)x3	IGH, IGHV1-69 +5 more	Copy number gain	See cases	GBenign
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154551	GRCh38/hg38 14q32.33(chr14:106692695-106713514)x1	IGH	Copy number loss	See cases	GBenign
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	BTBD6, C14orf180 +304 more	Copy number gain	See cases	GPathogenic
Select item 154435	GRCh38/hg38 14q32.33(chr14:106699079-106774412)x1	IGH, IGHV1-69 +4 more	Copy number loss	See cases	GBenign
Select item 154426	GRCh38/hg38 14q32.33(chr14:106467689-106774412)x3	IGH, IGHV1-45 +17 more	Copy number gain	See cases	GBenign
Select item 154405	GRCh38/hg38 14q32.33(chr14:106689633-106774412)x3	IGH, IGHV1-69 +4 more	Copy number gain	See cases	GBenign
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 154369	GRCh38/hg38 14q32.33(chr14:106623930-106689692)x3	IGH, IGHV3-64 +3 more	Copy number gain	See cases	GBenign
Select item 154365	GRCh38/hg38 14q32.33(chr14:106704829-106774412)x3	IGH, IGHV1-69 +4 more	Copy number gain	See cases	GBenign
Select item 154332	GRCh38/hg38 14q32.33(chr14:106692695-106771879)x1	IGH, IGHV1-69 +4 more	Copy number loss	See cases	GBenign
Select item 154320	GRCh38/hg38 14q32.33(chr14:106692722-106713503)x3	IGH	Copy number gain	See cases	GBenign

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