LOC126860025[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 59595	GRCh38/hg38 7p12.3(chr7:47843159-48156272)x3	C7orf57, HUS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 152777	GRCh38/hg38 7p12.3(chr7:48012022-48129375)x3	C7orf57, LOC126860025 +5 more	Copy number gain	See cases	GUncertain significance
Select item 2349487	NM_001030019.2(SUN3):c.47G>A (p.Arg16His)	LOC126860025, SUN3 (R16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261031	NM_001030019.2(SUN3):c.11A>G (p.Lys4Arg)	LOC126860025, SUN3 (K4R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign