"LMAN2L-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058632	NM_030805.4(LMAN2L):c.*5T>G	LMAN2L	Single nucleotide variant (3 prime UTR variant)	LMAN2L-related disorder	GLikely benign
Select item 3052169	NM_030805.4(LMAN2L):c.819A>G (p.Glu273=)	LMAN2L	Single nucleotide variant (synonymous variant)	LMAN2L-related disorder	GLikely benign
Select item 3042878	NM_030805.4(LMAN2L):c.339G>A (p.Val113=)	LMAN2L	Single nucleotide variant (synonymous variant +1 more)	LMAN2L-related disorder	GLikely benign
Select item 3049971	NM_030805.4(LMAN2L):c.307-10C>T	LMAN2L	Single nucleotide variant (intron variant)	LMAN2L-related disorder	GLikely benign
Select item 3046270	NM_030805.4(LMAN2L):c.62G>A (p.Arg21Gln)	LMAN2L (R21Q)	Single nucleotide variant (missense variant +1 more)	LMAN2L-related disorder	GUncertain significance

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