ClinVar for Gene (Select 104472718) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150625	GRCh38/hg38 12q24.32(chr12:126526398-127998599)x3	LINC00507, LINC00508 +28 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 149679	GRCh38/hg38 12q24.32(chr12:127145342-128422497)x4	LINC00507, LINC00508 +22 more	Copy number gain	See cases	GUncertain significance
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 147998	GRCh38/hg38 12q24.32-24.33(chr12:127900499-129778294)x3	GLT1D1, LINC00507 +43 more	Copy number gain	See cases	GUncertain significance
Select item 147531	GRCh38/hg38 12q24.32(chr12:126587447-127900558)x3	LINC00508, LINC00943 +25 more	Copy number gain	See cases	GUncertain significance
Select item 147530	GRCh38/hg38 12q24.32(chr12:127802658-128663624)x3	LINC00507, LINC00508 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic