Related gene-specific medical variations for Gene (Select 92255) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361387	NM_001007527.2(LMBRD2):c.1364T>G (p.Ile455Ser)	LMBRD2 (I455S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360012	NM_001007527.2(LMBRD2):c.723A>C (p.Glu241Asp)	LMBRD2 (E241D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689372	NM_001007527.2(LMBRD2):c.895A>G (p.Ile299Val)	LMBRD2 (I299V)	Single nucleotide variant (missense variant)	Developmental delay with variable neurologic and brain abnormalities	GUncertain significance
Select item 1690363	NM_001007527.2(LMBRD2):c.581G>A (p.Gly194Asp)	LMBRD2 (G194D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676559	NM_001007527.2(LMBRD2):c.1151G>A (p.Trp384Ter)	LMBRD2 (W384*)	Single nucleotide variant	not provided	GUncertain significance
Select item 1342470	NM_001007527.2(LMBRD2):c.1073C>T (p.Pro358Leu)	LMBRD2 (P358L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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