"Ambry Genetics"[submitter] AND "SCAI"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2511941	NM_001144877.3(SCAI):c.1750C>A (p.His584Asn)	SCAI (H584N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357310	NM_001144877.3(SCAI):c.1738C>A (p.His580Asn)	SCAI (H580N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381598	NM_001144877.3(SCAI):c.1633A>G (p.Ile545Val)	SCAI (I568V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255792	NM_001144877.3(SCAI):c.1591T>C (p.Phe531Leu)	SCAI (F554L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568967	NM_001144877.3(SCAI):c.1565G>A (p.Arg522His)	SCAI (R522H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316355	NM_001144877.3(SCAI):c.1558C>T (p.His520Tyr)	SCAI (H520Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353918	NM_001144877.3(SCAI):c.1535G>A (p.Arg512His)	SCAI (R512H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316356	NM_001144877.3(SCAI):c.1451T>C (p.Met484Thr)	SCAI (M484T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158197	NM_001144877.3(SCAI):c.1429C>T (p.Leu477Phe)	SCAI (L500F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333196	NM_001144877.3(SCAI):c.1328A>G (p.Asn443Ser)	SCAI (N443S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381814	NM_001144877.3(SCAI):c.1130G>A (p.Arg377His)	SCAI (R400H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271223	NM_001144877.3(SCAI):c.1079A>G (p.Asn360Ser)	SCAI (N383S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613673	NM_001144877.3(SCAI):c.945G>C (p.Met315Ile)	SCAI (M315I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490981	NM_001144877.3(SCAI):c.904C>G (p.Gln302Glu)	SCAI (Q325E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158201	NM_001144877.3(SCAI):c.838A>G (p.Ile280Val)	SCAI (I303V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559111	NM_001144877.3(SCAI):c.831C>G (p.Asp277Glu)	SCAI (D277E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364342	NM_001144877.3(SCAI):c.644G>A (p.Arg215Gln)	SCAI (R215Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487483	NM_001144877.3(SCAI):c.522G>T (p.Leu174Phe)	SCAI (L197F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158199	NM_001144877.3(SCAI):c.344G>T (p.Arg115Leu)	SCAI (R115L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158198	NM_001144877.3(SCAI):c.231A>G (p.Arg77=)	SCAI	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2280638	NM_001144877.3(SCAI):c.221A>G (p.Asn74Ser)	SCAI (N74S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316354	NM_001144877.3(SCAI):c.128C>A (p.Ser43Tyr)	SCAI (S43Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158200	NM_001144877.3(SCAI):c.74A>G (p.Lys25Arg)	SCAI (K25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 23