"GeneDx"[submitter] AND "LOC126860281"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 60328	GRCh38/hg38 8p23.3(chr8:202100-2017223)x1	LOC126860273, LOC126860274 +49 more	Copy number loss	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 152778	GRCh38/hg38 8p23.3(chr8:1786547-1944616)x3	ARHGEF10, CLN8 +7 more	Copy number gain	See cases	GUncertain significance
Select item 58955	GRCh38/hg38 8p23.3-23.2(chr8:1891352-3929104)x1	ARHGEF10, CSMD1 +25 more	Copy number loss	See cases	GUncertain significance
Select item 1234308	NM_014629.4(ARHGEF10):c.2144-174G>A	ARHGEF10, LOC126860281	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230404	NM_014629.4(ARHGEF10):c.2144-138T>C	ARHGEF10, LOC126860281	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293260	NM_014629.4(ARHGEF10):c.2144-16T>G	ARHGEF10, LOC126860281	Single nucleotide variant (intron variant)	not provided	GBenign

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