LOC126860757[gene] - ClinVar - NCBI

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

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 2599012	NM_000962.4(PTGS1):c.821A>G (p.Tyr274Cys)	LOC126860757, PTGS1 (Y249C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758789	NM_000962.4(PTGS1):c.906G>A (p.Thr302=)	LOC126860757, PTGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220838	NM_000962.4(PTGS1):c.928C>G (p.Arg310Gly)	LOC126860757, PTGS1 (R262G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659482	NM_000962.4(PTGS1):c.960C>G (p.Pro320=)	LOC126860757, PTGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2395344	NM_000962.4(PTGS1):c.989C>T (p.Thr330Met)	LOC126860757, PTGS1 (T221M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692148	NM_000962.4(PTGS1):c.994C>T (p.Arg332Cys)	LOC126860757, PTGS1 (R223C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance