ClinVar for Gene (Select 338005) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161007	GRCh38/hg38 14q32.33(chr14:106450995-106714110)x3	IGH, IGHV1-45 +12 more	Copy number gain	See cases	GBenign
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +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 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 154426	GRCh38/hg38 14q32.33(chr14:106467689-106774412)x3	IGH, IGHV1-45 +17 more	Copy number gain	See cases	GBenign
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 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 153898	GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1	LOC130056686, LOC130056687 +156 more	Copy number loss	See cases	GUncertain significance
Select item 153795	GRCh38/hg38 14q32.33(chr14:105224887-106877229)x6	BRF1, BTBD6 +152 more	Copy number gain	See cases	GUncertain significance
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
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 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 150185	GRCh38/hg38 14q32.33(chr14:105786368-106879501)x1	IGHV1-18, IGHV1-2 +98 more	Copy number loss	See cases	GBenign
Select item 149902	GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1	BRF1, BTBD6 +156 more	Copy number loss	See cases	GUncertain significance
Select item 149814	GRCh38/hg38 14q32.33(chr14:106208348-106774412)x3	IGH, IGHV1-24 +32 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 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	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 147917	GRCh38/hg38 14q32.33(chr14:106259748-106668563)x3	IGH, IGHV1-24 +24 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 147828	GRCh38/hg38 14q32.33(chr14:106112755-106714110)x3	IGH, IGHV1-18 +34 more	Copy number gain	See cases	GBenign
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146639	GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1	IGHV1-46, IGHV1-58 +174 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	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 146337	GRCh38/hg38 14q32.33(chr14:105817508-106855263)x1	FAM30A, IGH +95 more	Copy number loss	See cases	GLikely benign
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 145418	GRCh38/hg38 14q32.33(chr14:106467689-106565845)x3	IGH, IGHV1-45 +5 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 144572	GRCh38/hg38 14q32.33(chr14:106467689-106653068)x3	IGH, IGHV1-45 +10 more	Copy number gain	See cases	GBenign
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 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 57494	GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1	BRF1, BTBD6 +154 more	Copy number loss	See cases	GUncertain significance
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	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 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 34605	GRCh38/hg38 14q32.33(chr14:106450995-106714110)x3	IGH, IGHV1-45 +12 more	Copy number gain	See cases	GBenign

ClinVar

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Germline classification

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Links from Gene

Items: 46