LOC113687177[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 147676	GRCh38/hg38 7q22.1(chr7:101130561-101255628)x3	AP1S1, CLDN15 +23 more	Copy number gain	See cases	GBenign
Select item 1266377	NC_000007.14:g.101154351G>A	AP1S1, LOC113687177	Single nucleotide variant	not provided	GBenign
Select item 953816	NM_001283.5(AP1S1):c.2T>C (p.Met1Thr)	AP1S1, LOC113687177 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874552	NM_001283.5(AP1S1):c.3+7T>A	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912702	NM_001283.5(AP1S1):c.3+8G>T	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868216	NM_001283.5(AP1S1):c.3+8G>A	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846351	NM_001283.5(AP1S1):c.3+11C>A	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725013	NM_001283.5(AP1S1):c.3+12G>A	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920204	NM_001283.5(AP1S1):c.3+15G>T	AP1S1, LOC113687177	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798206	NM_001283.5(AP1S1):c.3+25_3+40dup	AP1S1, LOC113687177	Duplication (intron variant)	not provided	GLikely benign