ClinVar for Gene (Select 129929543) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 1684628	Single allele	LOC129929542, LOC129929543 +1 more	Deletion	Paragangliomas 4 +2 more	GPathogenic
Select item 584021	NC_000001.11:g.(?_17018881)_(17071491_?)del	LOC129929541, LOC129929542 +3 more	Deletion	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 18456	NC_000001.10:g.17376556_17396932del20377	LOC129929543, PADI2 +2 more	Deletion	Paragangliomas 4	GPathogenic
Select item 18455	NC_000001.10:g.17375249_17390927del15679	LOC129929542, LOC129929543 +1 more	Deletion	Paragangliomas 4	GPathogenic