ClinVar for Gene (Select 129996957) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1288356	NM_006016.6(CD164):c.175+16G>A	CD164, LOC129996957	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278305	NM_006016.6(CD164):c.175+237G>C	CD164, LOC129996957	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264423	NM_006016.6(CD164):c.175+166C>G	CD164, LOC129996957	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247054	NM_006016.6(CD164):c.175+100G>A	LOC129996957, CD164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222731	NM_006016.6(CD164):c.175+278del	CD164, LOC129996957	Deletion (intron variant)	not provided	GBenign
Select item 682716	NM_006016.6(CD164):c.175+80C>T	CD164, LOC129996957	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic