"Ambry Genetics"[submitter] AND "SAP30L"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2393323	NM_024632.6(SAP30L):c.36A>C (p.Glu12Asp)	LOC129995080, SAP30L (E12D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411146	NM_024632.6(SAP30L):c.40C>A (p.Pro14Thr)	SAP30L (P14T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219019	NM_024632.6(SAP30L):c.56C>T (p.Ala19Val)	SAP30L (A19V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255918	NM_024632.6(SAP30L):c.100G>A (p.Asp34Asn)	SAP30L (D34N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217576	NM_024632.6(SAP30L):c.277A>G (p.Ser93Gly)	SAP30L (S93G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2540548	NM_024632.6(SAP30L):c.319C>G (p.Pro107Ala)	SAP30L (P107A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2387608	NM_024632.6(SAP30L):c.319C>A (p.Pro107Thr)	SAP30L (P107T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2496131	NM_024632.6(SAP30L):c.379A>C (p.Lys127Gln)	SAP30L (K81Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328998	NM_024632.6(SAP30L):c.484A>G (p.Ile162Val)	SAP30L (I116V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602367	NM_024632.6(SAP30L):c.527C>T (p.Ser176Leu)	SAP30L (S130L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance