"Ambry Genetics"[submitter] AND "API5"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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