ClinVar for Gene (Select 120071) - ClinVar

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

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 2410445	NM_001300721.2(LARGE2):c.325A>T (p.Ser109Cys)	LARGE2 (S109C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362709	NM_001300721.2(LARGE2):c.1922T>C (p.Val641Ala)	LARGE2 (V641A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357023	NM_001300721.2(LARGE2):c.1450C>T (p.Arg484Trp)	LARGE2 (R453W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352645	NM_001300721.2(LARGE2):c.1772G>A (p.Arg591Gln)	LARGE2 (R560Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256919	NM_001300721.2(LARGE2):c.1115G>A (p.Arg372Gln)	LARGE2 (R341Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256918	NM_001300721.2(LARGE2):c.1068C>G (p.Phe356Leu)	LARGE2 (F325L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232982	NM_001300721.2(LARGE2):c.536A>G (p.Tyr179Cys)	LARGE2 (Y148C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213962	NM_001300721.2(LARGE2):c.895G>A (p.Ala299Thr)	LARGE2 (A268T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212106	NM_001300721.2(LARGE2):c.1217G>A (p.Arg406Gln)	LARGE2 (R406Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1457696	NC_000011.9:g.(?_45827353)_(46401497_?)del	CREB3L1, CRY2 +7 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	F2, FAM180B +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979916	GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4	ALX4, PRDM11 +13 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC130005592, LOC130005593 +111 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +78 more	Copy number loss	See cases	GPathogenic
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 25