LOC129934778[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 148546	GRCh38/hg38 2q21.1(chr2:130594216-131310557)x3	AMER3, ARHGEF4 +18 more	Copy number gain	See cases	GUncertain significance
Select item 154209	GRCh38/hg38 2q21.1(chr2:130684164-131278036)x3	AMER3, ARHGEF4 +14 more	Copy number gain	See cases	GUncertain significance
Select item 149080	GRCh38/hg38 2q21.1(chr2:130720159-131196705)x1	AMER3, ARHGEF4 +12 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152346	GRCh38/hg38 2q21.1(chr2:130720173-131278036)x1	AMER3, ARHGEF4 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 155407	GRCh38/hg38 2q21.1(chr2:130720374-131388759)x3	AMER3, ARHGEF4 +16 more	Copy number gain	See cases	GLikely benign
Select item 545243	NC_000002.12:g.(?_130725519)_(131168548_?)del	AMER3, ARHGEF4 +12 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 148063	GRCh38/hg38 2q21.1(chr2:130743933-131451535)x1	AMER3, ARHGEF4 +16 more	Copy number loss	See cases	GUncertain significance
Select item 148042	GRCh38/hg38 2q21.1(chr2:130743933-131549753)x1	AMER3, ARHGEF4 +24 more	Copy number loss	See cases	GUncertain significance
Select item 144151	GRCh38/hg38 2q21.1(chr2:130743933-131340280)x3	AMER3, ARHGEF4 +14 more	Copy number gain	See cases	GUncertain significance