"Ambry Genetics"[submitter] AND "SPACA3"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2228091	NM_173847.5(SPACA3):c.79C>T (p.Arg27Trp)	SPACA3 (R27W)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2382353	NM_173847.5(SPACA3):c.86T>C (p.Leu29Pro)	SPACA3 (L29P)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2214971	NM_173847.5(SPACA3):c.154G>A (p.Gly52Ser)	SPACA3 (G52S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2282051	NM_173847.5(SPACA3):c.212T>C (p.Leu71Ser)	SPACA3 (L71S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2596337	NM_173847.5(SPACA3):c.445A>T (p.Arg149Trp)	SPACA3 (R149W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302670	NM_173847.5(SPACA3):c.464C>T (p.Thr155Ile)	SPACA3 (T155I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516956	NM_173847.5(SPACA3):c.467C>T (p.Pro156Leu)	SPACA3 (P53L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518572	NM_173847.5(SPACA3):c.479A>G (p.Asn160Ser)	SPACA3 (N160S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493593	NM_173847.5(SPACA3):c.562C>G (p.Pro188Ala)	SPACA3 (P96A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance