"Ambry Genetics"[submitter] AND "SAP30BP"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157790	NM_013260.8(SAP30BP):c.8G>C (p.Gly3Ala)	LOC126862642, SAP30BP (G3A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299510	NM_013260.8(SAP30BP):c.10A>C (p.Lys4Gln)	LOC126862642, SAP30BP (K4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543940	NM_013260.8(SAP30BP):c.116G>A (p.Gly39Asp)	SAP30BP (G39D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559035	NM_013260.8(SAP30BP):c.171T>G (p.Asp57Glu)	SAP30BP (D57E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239707	NM_013260.8(SAP30BP):c.226G>A (p.Asp76Asn)	SAP30BP (D76N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2592283	NM_013260.8(SAP30BP):c.239A>C (p.Glu80Ala)	SAP30BP (E80A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474282	NM_013260.8(SAP30BP):c.254A>G (p.Asp85Gly)	SAP30BP (D85G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484851	NM_013260.8(SAP30BP):c.289G>A (p.Asp97Asn)	SAP30BP (D97N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306045	NM_013260.8(SAP30BP):c.373G>A (p.Gly125Ser)	LOC126862643, SAP30BP (G125S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316139	NM_013260.8(SAP30BP):c.427A>G (p.Ile143Val)	SAP30BP (I143V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518680	NM_013260.8(SAP30BP):c.590A>G (p.Tyr197Cys)	SAP30BP (Y181C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157788	NM_013260.8(SAP30BP):c.674C>T (p.Thr225Met)	SAP30BP (T209M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333601	NM_013260.8(SAP30BP):c.703G>C (p.Ala235Pro)	SAP30BP (A219P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568903	NM_013260.8(SAP30BP):c.706A>G (p.Thr236Ala)	SAP30BP (T236A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157789	NM_013260.8(SAP30BP):c.800C>G (p.Ala267Gly)	LOC126862644, SAP30BP (A267G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229584	NM_013260.8(SAP30BP):c.848C>T (p.Thr283Met)	LOC126862644, SAP30BP (T283M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance