Related gene-specific medical variations for Gene (Select 221496) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290453	NM_181336.4(LEMD2):c.188G>T (p.Arg63Leu)	LEMD2, LOC129996186 (R63L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290452	NM_181336.4(LEMD2):c.200G>C (p.Arg67Pro)	LEMD2, LOC129996186 (R67P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3290450	NM_181336.4(LEMD2):c.239C>T (p.Ala80Val)	LEMD2, LOC129996186 (A80V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3118339	NM_181336.4(LEMD2):c.139G>A (p.Glu47Lys)	LEMD2, LOC129996186 (E47K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 2715032	NM_181336.4(LEMD2):c.77C>G (p.Thr26Ser)	LEMD2, LOC129996186 (T26S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2605454	NM_181336.4(LEMD2):c.85G>C (p.Asp29His)	LEMD2, LOC129996186 (D29H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2600157	NM_181336.4(LEMD2):c.244T>G (p.Ser82Ala)	LEMD2, LOC129996186 (S82A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2388158	NM_181336.4(LEMD2):c.54C>A (p.Phe18Leu)	LEMD2, LOC129996186 (F18L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2286529	NM_181336.4(LEMD2):c.65C>T (p.Pro22Leu)	LEMD2, LOC129996186 (P22L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2065191	NM_181336.4(LEMD2):c.90C>G (p.Val30=)	LEMD2, LOC129996186	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1065592	NM_181336.4(LEMD2):c.1A>G (p.Met1Val)	LEMD2, LOC129996186 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Developmental cataract	GUncertain significance
Select item 776125	NM_181336.4(LEMD2):c.77C>A (p.Thr26Asn)	LEMD2, LOC129996186 (T26N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 235192	NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg)	LEMD2, LOC129996186 (L13R)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 46 juvenile-onset	GPathogenic