ClinVar for Gene (Select 8539) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 1707462	Single allele	ACCS, ACCSL +64 more	Duplication	not specified	GUncertain significance
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
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +72 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 149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	ACCS, ACCSL +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
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 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 24