ClinVar for Gene (Select 129935134) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 154811	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1	ATF2, ATP5MC3 +66 more	Copy number loss	See cases	GPathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 150325	GRCh38/hg38 2q31.1(chr2:174343200-174549848)x1	CIR1, GPR155 +5 more	Copy number loss	See cases	GUncertain significance
Select item 149687	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3	ATF2, ATP5MC3 +66 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 58768	GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1	ATF2, ATP5MC3 +68 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic