"Ambry Genetics"[submitter] AND "L3MBTL2-AS1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2235985	NM_031488.5(L3MBTL2):c.89A>G (p.Tyr30Cys)	L3MBTL2, L3MBTL2-AS1 (Y30C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2540060	NM_031488.5(L3MBTL2):c.125G>A (p.Ser42Asn)	L3MBTL2, L3MBTL2-AS1 (S42N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3117265	NM_031488.5(L3MBTL2):c.165A>T (p.Glu55Asp)	L3MBTL2, L3MBTL2-AS1 (E55D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3117268	NM_031488.5(L3MBTL2):c.217A>G (p.Ser73Gly)	L3MBTL2, L3MBTL2-AS1 (S73G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2489813	NM_031488.5(L3MBTL2):c.230C>A (p.Pro77His)	L3MBTL2, L3MBTL2-AS1 (P77H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2461975	NM_031488.5(L3MBTL2):c.232C>T (p.Arg78Cys)	L3MBTL2, L3MBTL2-AS1 (R78C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2323030	NM_031488.5(L3MBTL2):c.518A>T (p.Asp173Val)	L3MBTL2, L3MBTL2-AS1 (D173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523392	NM_031488.5(L3MBTL2):c.557A>G (p.Lys186Arg)	L3MBTL2, L3MBTL2-AS1 (K186R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2228901	NM_031488.5(L3MBTL2):c.575C>T (p.Ala192Val)	L3MBTL2, L3MBTL2-AS1 (A192V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance