"Ambry Genetics"[submitter] AND "MSL2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296434	NM_018133.4(MSL2):c.1712T>C (p.Ile571Thr)	MSL2 (I571T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211641	NM_018133.4(MSL2):c.1637T>C (p.Ile546Thr)	MSL2 (I472T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292608	NM_018133.4(MSL2):c.1525A>C (p.Lys509Gln)	MSL2 (K435Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230623	NM_018133.4(MSL2):c.1332G>A (p.Met444Ile)	MSL2 (M370I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368873	NM_018133.4(MSL2):c.1321C>G (p.His441Asp)	MSL2 (H367D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534289	NM_018133.4(MSL2):c.1297G>A (p.Ala433Thr)	MSL2 (A359T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388114	NM_018133.4(MSL2):c.1228A>G (p.Lys410Glu)	MSL2 (K410E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320677	NM_018133.4(MSL2):c.1223T>C (p.Met408Thr)	MSL2 (M334T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211629	NM_018133.4(MSL2):c.1194C>A (p.Ser398Arg)	MSL2 (S324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211628	NM_018133.4(MSL2):c.1186A>G (p.Lys396Glu)	MSL2 (K322E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311564	NM_018133.4(MSL2):c.1165C>T (p.Pro389Ser)	MSL2 (P315S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624347	NM_018133.4(MSL2):c.1109C>T (p.Ala370Val)	MSL2 (A296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203805	NM_018133.4(MSL2):c.992C>G (p.Ala331Gly)	MSL2 (A331G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211673	NM_018133.4(MSL2):c.971A>T (p.His324Leu)	MSL2 (H250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296886	NM_018133.4(MSL2):c.959G>C (p.Ser320Thr)	MSL2 (S246T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533649	NM_018133.4(MSL2):c.739T>C (p.Cys247Arg)	MSL2 (C173R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211653	NM_018133.4(MSL2):c.658G>A (p.Val220Ile)	MSL2 (V220I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561093	NM_018133.4(MSL2):c.658G>T (p.Val220Leu)	MSL2 (V220L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526075	NM_018133.4(MSL2):c.629C>T (p.Pro210Leu)	MSL2 (P210L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336050	NM_018133.4(MSL2):c.593A>G (p.Asn198Ser)	MSL2 (N124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475601	NM_018133.4(MSL2):c.535G>T (p.Glu179Ter)	MSL2 (E179* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2265934	NM_018133.4(MSL2):c.521dup (p.Leu174fs)	MSL2 (L100fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2217012	NM_018133.4(MSL2):c.163A>G (p.Ile55Val)	MSL2 (I55V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 23