IGH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147836	NCBI36/hg18 14q32.33(chr14:105143707-105280567)x1	IGH, IGHA1 +5 more	Copy number loss	See cases	GBenign
Select item 57511	GRCh37/hg19 14q32.3(chr14:106252705-106538480)x1	FAM30A, IGH +52 more	Copy number loss	See cases	GBenign
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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	SNORD114-11, SNORD114-12 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056455, LOC130056456 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	ADSS1, AHNAK2 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	ADSS1, AHNAK2 +653 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	LOC130056511, LOC130056512 +631 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	LOC126862061, LOC126862062 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	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 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	ADSS1, AHNAK2 +561 more	Copy number loss	See cases	GPathogenic
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 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LOC130056610, LOC130056611 +416 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	IGHV3-38, IGHV3-43 +397 more	Copy number loss	See cases	GPathogenic
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 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	C14orf180, CDC42BPB +367 more	Copy number loss	See cases	GPathogenic
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 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 150815	GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	LOC130056682, LOC130056683 +85 more	Copy number gain	See cases	GUncertain significance
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 146639	GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1	BRF1, BTBD6 +174 more	Copy number loss	See cases	GPathogenic
Select item 149902	GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1	BRF1, BTBD6 +156 more	Copy number loss	See cases	GUncertain significance
Select item 153898	GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1	BRF1, BTBD6 +156 more	Copy number loss	See cases	GUncertain significance
Select item 57494	GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1	BRF1, BTBD6 +154 more	Copy number loss	See cases	GUncertain significance
Select item 153795	GRCh38/hg38 14q32.33(chr14:105224887-106877229)x6	IGHD2-8, IGHD3-10 +152 more	Copy number gain	See cases	GUncertain significance
Select item 154889	GRCh38/hg38 14q32.33(chr14:105453295-106879298)x1	CRIP1, CRIP2 +127 more	Copy number loss	See cases	GPathogenic
Select item 148010	GRCh38/hg38 14q32.33(chr14:105573256-106855263)x3	FAM30A, IGH +105 more	Copy number gain	See cases	GPathogenic
Select item 2644924	NC_000014.9:g.105600505T>C	IGH, IGHE	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 14808	NC_000014.9:g.105643212dup	IGH, IGHG2	Duplication	Decreased circulating IgG2 level	GPathogenic
Select item 2644926	NC_000014.9:g.105644563G>C	IGH, IGHG2	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 150185	GRCh38/hg38 14q32.33(chr14:105786368-106879501)x1	FAM30A, IGH +98 more	Copy number loss	See cases	GBenign
Select item 146337	GRCh38/hg38 14q32.33(chr14:105817508-106855263)x1	FAM30A, IGH +95 more	Copy number loss	See cases	GLikely benign
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 2688319	NC_000014.9:g.105852108C>T	IGH, IGHM	Single nucleotide variant	not specified	GBenign
Select item 14810	NC_000014.9:g.105854405C>T	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 156278	NC_000014.9:g.105854468A>C	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	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 14813	NC_000014.9:g.105855107C>T	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 973583	NC_000014.9:g.105855132dup	IGH, IGHM	Duplication	Autosomal recessive agammaglobulinemia 1	GLikely pathogenic
Select item 2428589	NC_000014.9:g.105855203G>A	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GBenign
Select item 2688227	NC_000014.9:g.105855558C>T	IGH, IGHM	Single nucleotide variant	not specified	GBenign
Select item 14812	NC_000014.9:g.105855623_105855624del	IGH, IGHM	Deletion	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 2687990	NC_000014.9:g.105855808A>G	IGH, IGHM	Single nucleotide variant	not specified	GBenign
Select item 439814	NC_000014.9:g.105855988G>C	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GBenign
Select item 1339539	NC_000014.9:g.105856013G>T	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GLikely pathogenic
Select item 427234	NC_000014.9:g.105856087G>A	IGH, IGHM	Single nucleotide variant	Autosomal recessive agammaglobulinemia 1	GPathogenic
Select item 439815	NC_000014.9:g.105856156C>T	IGH, IGHM	Single nucleotide variant	not provided +1 more	GBenign
Select item 2688041	NC_000014.9:g.105856283G>A	IGH	Single nucleotide variant	not specified	GBenign
Select item 2644928	NC_000014.9:g.105909907G>A	IGH, IGHD1-7	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 57190	GRCh38/hg38 14q32.33(chr14:105939848-106451054)x1	IGH, IGHV1-18 +31 more	Copy number loss	See cases	GBenign
Select item 144322	GRCh38/hg38 14q32.33(chr14:105987551-106318409)x1	IGH, IGHV1-18 +19 more	Copy number loss	See cases	GBenign
Select item 57477	GRCh38/hg38 14q32.33(chr14:105987551-106259807)x1	IGH, IGHV1-18 +15 more	Copy number loss	See cases	GBenign
Select item 150959	GRCh38/hg38 14q32.33(chr14:106056681-106467748)x3	IGH, IGHV1-18 +24 more	Copy number gain	See cases	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 147828	GRCh38/hg38 14q32.33(chr14:106112755-106714110)x3	IGH, IGHV1-18 +34 more	Copy number gain	See cases	GBenign
Select item 144351	GRCh38/hg38 14q32.33(chr14:106112755-106396261)x3	IGH, IGHV1-18 +19 more	Copy number gain	See cases	GBenign
Select item 32779	GRCh38/hg38 14q32.33(chr14:106112755-106318409)x1	IGH, IGHV1-18 +12 more	Copy number loss	See cases	GBenign
Select item 150545	GRCh38/hg38 14q32.33(chr14:106118296-106467900)x3	IGH, IGHV1-18 +20 more	Copy number gain	See cases	GBenign
Select item 2644930	NC_000014.9:g.106165243G>A	IGH, IGHV3-16	Single nucleotide variant	not provided	GLikely benign
Select item 149814	GRCh38/hg38 14q32.33(chr14:106208348-106774412)x3	IGH, IGHV1-24 +32 more	Copy number gain	See cases	GBenign
Select item 146765	GRCh38/hg38 14q32.33(chr14:106208348-106396271)x1	IGH, IGHV1-24 +12 more	Copy number loss	See cases	GBenign
Select item 146739	GRCh38/hg38 14q32.33(chr14:106208348-106467748)x1	IGH, IGHV1-24 +14 more	Copy number loss	See cases	GBenign
Select item 2644931	NC_000014.9:g.106235357C>G	IGH, IGHV3-21	Single nucleotide variant	not provided	GLikely benign
Select item 147917	GRCh38/hg38 14q32.33(chr14:106259748-106668563)x3	IGH, IGHV1-24 +24 more	Copy number gain	See cases	GBenign
Select item 150935	GRCh38/hg38 14q32.33(chr14:106329896-106879298)x1	IGH, IGHV1-45 +32 more	Copy number loss	See cases	GLikely benign
Select item 147073	GRCh38/hg38 14q32.33(chr14:106329925-106354331)x1	IGH, IGHV3-30 +2 more	Copy number loss	See cases	GBenign
Select item 147072	GRCh38/hg38 14q32.33(chr14:106329925-106354331)x3	IGH, IGHV3-30 +2 more	Copy number gain	See cases	GBenign
Select item 149621	GRCh38/hg38 14q32.33(chr14:106375577-106633188)x3	IGH, IGHV1-45 +12 more	Copy number gain	See cases	GBenign
Select item 147853	GRCh38/hg38 14q32.33(chr14:106396202-106714110)x3	IGH, IGHV1-45 +14 more	Copy number gain	See cases	GBenign
Select item 145315	GRCh38/hg38 14q32.33(chr14:106396212-106633188)x3	IGH, IGHV1-45 +11 more	Copy number gain	See cases	GBenign
Select item 2644932	NC_000014.9:g.106422120G>C	IGH, IGHV4-39	Single nucleotide variant	not provided	GLikely benign
Select item 147110	GRCh38/hg38 14q32.33(chr14:106450803-106475159)x1	IGH, IGHV3-43	Copy number loss	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 34605	GRCh38/hg38 14q32.33(chr14:106450995-106714110)x3	IGH, IGHV1-45 +12 more	Copy number gain	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 145418	GRCh38/hg38 14q32.33(chr14:106467689-106565845)x3	IGH, IGHV1-45 +5 more	Copy number gain	See cases	GBenign
Select item 144572	GRCh38/hg38 14q32.33(chr14:106467689-106653068)x3	IGH, IGHV1-45 +10 more	Copy number gain	See cases	GBenign
Select item 145411	GRCh38/hg38 14q32.33(chr14:106501945-106774412)x3	IGH, IGHV1-45 +15 more	Copy number gain	See cases	GBenign
Select item 146104	GRCh38/hg38 14q32.33(chr14:106614348-106714251)x3	IGHV1-58, IGH +4 more	Copy number gain	See cases	GBenign
Select item 144136	GRCh38/hg38 14q32.33(chr14:106614548-106714110)x3	IGH, IGHV1-58 +4 more	Copy number gain	See cases	GBenign
Select item 149998	GRCh38/hg38 14q32.33(chr14:106614593-106653068)x1	IGH, IGHV1-58 +2 more	Copy number loss	See cases	GBenign
Select item 154369	GRCh38/hg38 14q32.33(chr14:106623930-106689692)x3	IGH, IGHV3-64 +3 more	Copy number gain	See cases	GBenign
Select item 146826	GRCh38/hg38 14q32.33(chr14:106623930-106696009)x1	IGH, IGHV3-64 +3 more	Copy number loss	See cases	GBenign
Select item 144181	GRCh38/hg38 14q32.33(chr14:106623987-106678844)x1	IGH, IGHV3-64 +3 more	Copy number loss	See cases	GBenign
Select item 2644933	NC_000014.9:g.106627284G>C	IGH, IGHV4-59	Single nucleotide variant	not provided	GLikely benign
Select item 2644934	NC_000014.9:g.106639380T>C	IGH, IGHV4-61	Single nucleotide variant	not provided	GLikely benign

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