API5[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +72 more	Copy number loss	See cases	GPathogenic
Select item 149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	ACCS, ACCSL +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +74 more	Copy number gain	See cases	GUncertain significance
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 1707462	Single allele	ACCS, ACCSL +64 more	Duplication	not specified	GUncertain significance
Select item 2606840	NM_001142930.2(API5):c.274G>A (p.Gly92Arg)	API5 (G38R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475848	NM_001142930.2(API5):c.587A>G (p.Lys196Arg)	API5 (K142R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618499	NM_001142930.2(API5):c.760C>G (p.His254Asp)	API5 (H200D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385700	NM_001142930.2(API5):c.803C>G (p.Pro268Arg)	API5 (P268R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3306547	NM_001142930.2(API5):c.824C>T (p.Thr275Ile)	API5 (T275I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127818	NM_001142930.2(API5):c.1108C>G (p.Leu370Val)	API5 (L197V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274185	NM_001142930.2(API5):c.1204G>A (p.Ala402Thr)	API5 (A229T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127819	NM_001142930.2(API5):c.1388G>A (p.Gly463Asp)	API5 (G409D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127820	NM_001142930.2(API5):c.1512G>A (p.Arg504=)	API5 (G503R +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979923	GRCh37/hg19 11p12-11.2(chr11:43223479-44266544)x3	ALKBH3, API5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	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

Search results

Items: 24