"Ambry Genetics"[submitter] AND "LOC130056996"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3093019	NM_024063.3(AFG2B):c.26C>T (p.Pro9Leu)	AFG2B, LOC130056996 (P9L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3093028	NM_024063.3(AFG2B):c.37C>G (p.Leu13Val)	AFG2B, LOC130056996 (L13V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance