"LEMD2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2069437	NM_181336.4(LEMD2):c.1258+4C>T	LEMD2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3045864	NM_181336.4(LEMD2):c.1032T>A (p.Ser344=)	LEMD2	Single nucleotide variant (synonymous variant)	LEMD2-related disorder	GLikely benign
Select item 2042860	NM_181336.4(LEMD2):c.995A>G (p.Lys332Arg)	LEMD2 (K332R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 716351	NM_181336.4(LEMD2):c.854-3T>C	LEMD2	Single nucleotide variant (intron variant)	LEMD2-related disorder +1 more	GBenign/Likely benign
Select item 1294825	NM_181336.4(LEMD2):c.854-15dup	LEMD2	Duplication (intron variant)	not provided +1 more	GBenign
Select item 716352	NM_181336.4(LEMD2):c.462C>T (p.Gly154=)	LEMD2	Single nucleotide variant (synonymous variant +1 more)	LEMD2-related disorder +1 more	GBenign
Select item 3057738	NM_181336.4(LEMD2):c.147G>A (p.Arg49=)	LEMD2, LOC129996186	Single nucleotide variant (5 prime UTR variant +1 more)	LEMD2-related disorder	GLikely benign
Select item 776125	NM_181336.4(LEMD2):c.77C>A (p.Thr26Asn)	LEMD2, LOC129996186 (T26N)	Single nucleotide variant (5 prime UTR variant +1 more)	LEMD2-related disorder +1 more	GLikely benign

ClinVar