"Ambry Genetics"[submitter] AND "SKAP2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318694	NM_003930.5(SKAP2):c.1030G>A (p.Ala344Thr)	SKAP2 (A172T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318693	NM_003930.5(SKAP2):c.1001A>T (p.Tyr334Phe)	SKAP2 (Y334F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318696	NM_003930.5(SKAP2):c.920A>T (p.Asp307Val)	SKAP2 (D135V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318695	NM_003930.5(SKAP2):c.817C>T (p.Pro273Ser)	SKAP2 (P273S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235892	NM_003930.5(SKAP2):c.752C>T (p.Thr251Ile)	SKAP2 (T251I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332516	NM_003930.5(SKAP2):c.343C>G (p.Pro115Ala)	SKAP2 (P115A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3318692	NM_003930.5(SKAP2):c.257T>C (p.Ile86Thr)	SKAP2 (I86T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2609368	NM_003930.5(SKAP2):c.238G>T (p.Ala80Ser)	SKAP2 (A80S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2316051	NM_003930.5(SKAP2):c.233C>A (p.Pro78His)	SKAP2 (P78H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2216302	NM_003930.5(SKAP2):c.212A>C (p.Asp71Ala)	SKAP2 (D71A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2468481	NM_003930.5(SKAP2):c.172A>G (p.Ile58Val)	SKAP2 (I58V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2343246	NM_003930.5(SKAP2):c.147T>G (p.Ile49Met)	SKAP2 (I49M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2290971	NM_003930.5(SKAP2):c.58C>G (p.Leu20Val)	SKAP2 (L20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance