"GeneDx"[submitter] AND "LOC129999894"[gene] - ClinVar - NCBI

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Items: 12

	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 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 144940	GRCh38/hg38 8p23.1(chr8:11534277-11562107)x3	BLK, LOC126860303 +6 more	Copy number gain	See cases	GBenign
Select item 1215879	NM_001715.3(BLK):c.175+31C>G	BLK, LOC129999894	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190398	NM_001715.3(BLK):c.175+153G>A	BLK, LOC129999894	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218473	NM_001715.3(BLK):c.175+154G>C	BLK, LOC129999894	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292676	NM_001715.3(BLK):c.175+157C>G	BLK, LOC129999894	Single nucleotide variant (intron variant)	not provided	GBenign