ClinVar for Gene (Select 112272571) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1278620	NC_000014.9:g.96363661G>A	ATG2B, GSKIP +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277736	NM_018036.7(ATG2B):c.-242C>G	ATG2B, LOC112272571	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1273638	NC_000014.9:g.96363513G>T	ATG2B, LOC112272571	Single nucleotide variant	not provided	GBenign
Select item 208237	NC_000014.9:g.95696766_96390792dup	LOC126862036, LOC126862037 +30 more	Duplication	Thrombocythemia 1 +2 more	GLikely pathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC112268136, LOC112268140 +3283 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1205 more	Copy number gain	See cases	GPathogenic
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 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3278 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ALDH6A1, ALKBH1 +1424 more	Copy number gain	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 58336	GRCh38/hg38 14q32.13-32.2(chr14:95787358-96453757)x3	AK7, ATG2B +20 more	Copy number gain	See cases	GUncertain significance