"Ambry Genetics"[submitter] AND "LOC130064797"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2466012	NM_014417.5(BBC3):c.261C>T (p.Gly87=)	BBC3, LOC130064797 (P122S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2522554	NM_014417.5(BBC3):c.247A>C (p.Ser83Arg)	BBC3, LOC130064797 (Q117P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508533	NM_014417.5(BBC3):c.224C>T (p.Ser75Phe)	BBC3, LOC130064797 (S75F)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2596490	NM_014417.5(BBC3):c.126C>T (p.Pro42=)	BBC3, LOC130064797 (R77W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2291556	NM_014417.5(BBC3):c.121G>T (p.Glu41Ter)	BBC3, LOC130064797 (E41* +1 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2549207	NM_014417.5(BBC3):c.78G>T (p.Pro26=)	BBC3, LOC130064797 (A61S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2479538	NM_014417.5(BBC3):c.66G>C (p.Pro22=)	BBC3, LOC130064797 (A57P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2518638	NM_014417.5(BBC3):c.33G>A (p.Pro11=)	BBC3, LOC130064797 (G46R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance